Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346624_150346625insACT , CM000663.2:g.150346624_150346625insACT	GRCh38
NC_000001.10:g.150319100_150319101insACT , CM000663.1:g.150319100_150319101insACT	GRCh37
NC_000001.9:g.148585724_148585725insACT	NCBI36
NG_008245.1:g.30173_30174insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+133_1843+134insACT MANE Select	ENSP00000315379.6:n.1843+133_1843+134insACT
ENST00000324862.6:c.1843+133_1843+134insACT	ENSP00000315379.6:n.1843+133_1843+134insACT
ENST00000467329.5:n.2170+133_2170+134insACT
ENST00000476970.1:n.952+133_952+134insACT
NM_004698.2:c.1843+133_1843+134insACT	NP_004689.1:n.1843+133_1843+134insACT
XM_011510128.1:c.1853+123_1853+124insACT	XP_011508430.1:n.1853+123_1853+124insACT
XM_011510129.1:c.1438+133_1438+134insACT	XP_011508431.1:n.1438+133_1438+134insACT
XM_011510130.1:c.1411+133_1411+134insACT	XP_011508432.1:n.1411+133_1411+134insACT
XR_241103.1:n.1826+133_1826+134insACT
XR_921997.1:n.1836+123_1836+124insACT
XR_921998.1:n.1940+133_1940+134insACT
NM_001350529.1:c.1438+133_1438+134insACT	NP_001337458.1:n.1438+133_1438+134insACT
NM_004698.3:c.1843+133_1843+134insACT	NP_004689.1:n.1843+133_1843+134insACT
NR_146766.1:n.2074+133_2074+134insACT
NR_146767.1:n.2170+133_2170+134insACT
NR_146768.1:n.2026+123_2026+124insACT
NR_146769.1:n.2079+123_2079+124insACT
XM_011510130.3:c.1411+133_1411+134insACT	XP_011508432.1:n.1411+133_1411+134insACT
XM_017002790.1:c.1411+133_1411+134insACT	XP_016858279.1:n.1411+133_1411+134insACT
XR_001737536.2:n.1876+133_1876+134insACT
XR_001737537.2:n.1990+133_1990+134insACT
XR_001737540.2:n.2747+133_2747+134insACT
XR_001737541.2:n.1770+133_1770+134insACT
XR_002958009.1:n.2500+133_2500+134insACT
XR_002958010.1:n.3746+123_3746+124insACT
XR_002958012.1:n.1942+123_1942+124insACT
XR_241103.3:n.1818+133_1818+134insACT
XR_921997.3:n.1828+123_1828+124insACT
XR_921998.3:n.1932+133_1932+134insACT
NM_004698.4:c.1843+133_1843+134insACT MANE Select	NP_004689.1:n.1843+133_1843+134insACT