Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105638646_105638649delinsGAAT , CM000671.2:g.105638646_105638649delinsGAAT	GRCh38
NC_000009.11:g.108400927_108400930delinsGAAT , CM000671.1:g.108400927_108400930delinsGAAT	GRCh37
NC_000009.10:g.107440748_107440751delinsGAAT	NCBI36
NG_008754.1:g.85517_85520delinsGAAT , LRG_434:g.85517_85520delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.3382_3385delinsGAAT MANE Select	ENSP00000350687.6:n.3382_3385delinsGAAT
ENST00000642952.1:c.1611-1455_1611-1452delinsGAAT	ENSP00000493886.1:n.1611-1455_1611-1452delinsGAAT
ENST00000644273.1:c.554-1455_554-1452delinsGAAT
ENST00000674633.1:c.1270+3498_1270+3501delinsGAAT	ENSP00000502164.1:n.1270+3498_1270+3501delinsGAAT
ENST00000675695.1:c.3749_3752delinsGAAT	ENSP00000502460.1:n.3749_3752delinsGAAT
ENST00000675736.1:c.4548_4551delinsGAAT	ENSP00000502809.1:n.4548_4551delinsGAAT
ENST00000676011.1:n.6132_6135delinsGAAT
ENST00000676310.1:c.1270+3498_1270+3501delinsGAAT	ENSP00000501585.1:n.1270+3498_1270+3501delinsGAAT
ENST00000223528.6:c.3382_3385delinsGAAT	ENSP00000223528.2:n.3382_3385delinsGAAT
ENST00000357998.9:c.1271-1455_1271-1452delinsGAAT	ENSP00000350687.5:n.1271-1455_1271-1452delinsGAAT
ENST00000448551.6:c.1271-1455_1271-1452delinsGAAT	ENSP00000399140.2:n.1271-1455_1271-1452delinsGAAT
ENST00000602526.1:c.4806_4809delinsGAAT	ENSP00000473347.1:n.4806_4809delinsGAAT
NM_001079802.1:c.3382_3385delinsGAAT , LRG_434t1:c.3382_3385delinsGAAT	NP_001073270.1:n.3382_3385delinsGAAT
NM_001198963.1:c.1271-1455_1271-1452delinsGAAT	NP_001185892.1:n.1271-1455_1271-1452delinsGAAT
NM_006731.2:c.3382_3385delinsGAAT , LRG_434t2:c.3382_3385delinsGAAT	NP_006722.2:n.3382_3385delinsGAAT
XM_006717014.2:c.3560_3563delinsGAAT	XP_006717077.1:n.3560_3563delinsGAAT
NM_001351496.1:c.3382_3385delinsGAAT	NP_001338425.1:n.3382_3385delinsGAAT
NM_001351497.1:c.3382_3385delinsGAAT	NP_001338426.1:n.3382_3385delinsGAAT
NM_001351498.1:c.3560_3563delinsGAAT	NP_001338427.1:n.3560_3563delinsGAAT
NM_001351499.1:c.3382_3385delinsGAAT	NP_001338428.1:n.3382_3385delinsGAAT
NM_001351500.1:c.3382_3385delinsGAAT	NP_001338429.1:n.3382_3385delinsGAAT
NM_001351501.1:c.3382_3385delinsGAAT	NP_001338430.1:n.3382_3385delinsGAAT
NM_001351502.1:c.3382_3385delinsGAAT	NP_001338431.1:n.3382_3385delinsGAAT
NR_147213.1:n.4892_4895delinsGAAT
NR_147214.1:n.5064_5067delinsGAAT
XM_011518391.2:c.3560_3563delinsGAAT	XP_011516693.1:n.3560_3563delinsGAAT
XM_017014464.1:c.1270+3498_1270+3501delinsGAAT	XP_016869953.1:n.1270+3498_1270+3501delinsGAAT
XM_017014465.1:c.1270+3498_1270+3501delinsGAAT	XP_016869954.1:n.1270+3498_1270+3501delinsGAAT
XM_017014467.1:c.3382_3385delinsGAAT	XP_016869956.1:n.3382_3385delinsGAAT
XM_017014468.1:c.3382_3385delinsGAAT	XP_016869957.1:n.3382_3385delinsGAAT
XM_017014469.1:c.1270+3498_1270+3501delinsGAAT	XP_016869958.1:n.1270+3498_1270+3501delinsGAAT
XM_017014470.1:c.1270+3498_1270+3501delinsGAAT	XP_016869959.1:n.1270+3498_1270+3501delinsGAAT
XR_001746242.2:n.1837+3498_1837+3501delinsGAAT
XR_001746244.2:n.1665+3498_1665+3501delinsGAAT
XR_001746245.1:n.5154_5157delinsGAAT
XR_001746248.1:n.6247_6250delinsGAAT
XR_002956770.1:n.5010_5013delinsGAAT
NM_001079802.2:c.3382_3385delinsGAAT MANE Select	NP_001073270.1:n.3382_3385delinsGAAT
NM_001198963.2:c.1271-1455_1271-1452delinsGAAT	NP_001185892.1:n.1271-1455_1271-1452delinsGAAT
NM_001351496.2:c.3382_3385delinsGAAT	NP_001338425.1:n.3382_3385delinsGAAT
NM_001351497.2:c.3382_3385delinsGAAT	NP_001338426.1:n.3382_3385delinsGAAT
NM_001351498.2:c.3560_3563delinsGAAT	NP_001338427.1:n.3560_3563delinsGAAT
NM_001351499.2:c.3382_3385delinsGAAT	NP_001338428.1:n.3382_3385delinsGAAT
NM_001351500.2:c.3382_3385delinsGAAT	NP_001338429.1:n.3382_3385delinsGAAT
NM_001351501.2:c.3382_3385delinsGAAT	NP_001338430.1:n.3382_3385delinsGAAT
NM_001351502.2:c.3382_3385delinsGAAT	NP_001338431.1:n.3382_3385delinsGAAT
NR_147213.2:n.4891_4894delinsGAAT
NR_147214.2:n.5063_5066delinsGAAT

HGVS	Amino-acid Change
ENST00000357998.10:c.3382_3385delinsGAAT MANE Select	ENSP00000350687.6:n.3382_3385delinsGAAT
ENST00000642952.1:c.1611-1455_1611-1452delinsGAAT	ENSP00000493886.1:n.1611-1455_1611-1452delinsGAAT
ENST00000644273.1:c.554-1455_554-1452delinsGAAT
ENST00000674633.1:c.1270+3498_1270+3501delinsGAAT	ENSP00000502164.1:n.1270+3498_1270+3501delinsGAAT
ENST00000675695.1:c.3749_3752delinsGAAT	ENSP00000502460.1:n.3749_3752delinsGAAT
ENST00000675736.1:c.4548_4551delinsGAAT	ENSP00000502809.1:n.4548_4551delinsGAAT
ENST00000676011.1:n.6132_6135delinsGAAT
ENST00000676310.1:c.1270+3498_1270+3501delinsGAAT	ENSP00000501585.1:n.1270+3498_1270+3501delinsGAAT
ENST00000223528.6:c.3382_3385delinsGAAT	ENSP00000223528.2:n.3382_3385delinsGAAT
ENST00000357998.9:c.1271-1455_1271-1452delinsGAAT	ENSP00000350687.5:n.1271-1455_1271-1452delinsGAAT
ENST00000448551.6:c.1271-1455_1271-1452delinsGAAT	ENSP00000399140.2:n.1271-1455_1271-1452delinsGAAT
ENST00000602526.1:c.4806_4809delinsGAAT	ENSP00000473347.1:n.4806_4809delinsGAAT
NM_001079802.1:c.3382_3385delinsGAAT , LRG_434t1:c.3382_3385delinsGAAT	NP_001073270.1:n.3382_3385delinsGAAT
NM_001198963.1:c.1271-1455_1271-1452delinsGAAT	NP_001185892.1:n.1271-1455_1271-1452delinsGAAT
NM_006731.2:c.3382_3385delinsGAAT , LRG_434t2:c.3382_3385delinsGAAT	NP_006722.2:n.3382_3385delinsGAAT
XM_006717014.2:c.3560_3563delinsGAAT	XP_006717077.1:n.3560_3563delinsGAAT
NM_001351496.1:c.3382_3385delinsGAAT	NP_001338425.1:n.3382_3385delinsGAAT
NM_001351497.1:c.3382_3385delinsGAAT	NP_001338426.1:n.3382_3385delinsGAAT
NM_001351498.1:c.3560_3563delinsGAAT	NP_001338427.1:n.3560_3563delinsGAAT
NM_001351499.1:c.3382_3385delinsGAAT	NP_001338428.1:n.3382_3385delinsGAAT
NM_001351500.1:c.3382_3385delinsGAAT	NP_001338429.1:n.3382_3385delinsGAAT
NM_001351501.1:c.3382_3385delinsGAAT	NP_001338430.1:n.3382_3385delinsGAAT
NM_001351502.1:c.3382_3385delinsGAAT	NP_001338431.1:n.3382_3385delinsGAAT
NR_147213.1:n.4892_4895delinsGAAT
NR_147214.1:n.5064_5067delinsGAAT
XM_011518391.2:c.3560_3563delinsGAAT	XP_011516693.1:n.3560_3563delinsGAAT
XM_017014464.1:c.1270+3498_1270+3501delinsGAAT	XP_016869953.1:n.1270+3498_1270+3501delinsGAAT
XM_017014465.1:c.1270+3498_1270+3501delinsGAAT	XP_016869954.1:n.1270+3498_1270+3501delinsGAAT
XM_017014467.1:c.3382_3385delinsGAAT	XP_016869956.1:n.3382_3385delinsGAAT
XM_017014468.1:c.3382_3385delinsGAAT	XP_016869957.1:n.3382_3385delinsGAAT
XM_017014469.1:c.1270+3498_1270+3501delinsGAAT	XP_016869958.1:n.1270+3498_1270+3501delinsGAAT
XM_017014470.1:c.1270+3498_1270+3501delinsGAAT	XP_016869959.1:n.1270+3498_1270+3501delinsGAAT
XR_001746242.2:n.1837+3498_1837+3501delinsGAAT
XR_001746244.2:n.1665+3498_1665+3501delinsGAAT
XR_001746245.1:n.5154_5157delinsGAAT
XR_001746248.1:n.6247_6250delinsGAAT
XR_002956770.1:n.5010_5013delinsGAAT
NM_001079802.2:c.3382_3385delinsGAAT MANE Select	NP_001073270.1:n.3382_3385delinsGAAT
NM_001198963.2:c.1271-1455_1271-1452delinsGAAT	NP_001185892.1:n.1271-1455_1271-1452delinsGAAT
NM_001351496.2:c.3382_3385delinsGAAT	NP_001338425.1:n.3382_3385delinsGAAT
NM_001351497.2:c.3382_3385delinsGAAT	NP_001338426.1:n.3382_3385delinsGAAT
NM_001351498.2:c.3560_3563delinsGAAT	NP_001338427.1:n.3560_3563delinsGAAT
NM_001351499.2:c.3382_3385delinsGAAT	NP_001338428.1:n.3382_3385delinsGAAT
NM_001351500.2:c.3382_3385delinsGAAT	NP_001338429.1:n.3382_3385delinsGAAT
NM_001351501.2:c.3382_3385delinsGAAT	NP_001338430.1:n.3382_3385delinsGAAT
NM_001351502.2:c.3382_3385delinsGAAT	NP_001338431.1:n.3382_3385delinsGAAT
NR_147213.2:n.4891_4894delinsGAAT
NR_147214.2:n.5063_5066delinsGAAT