Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346502_150346503delinsGT , CM000663.2:g.150346502_150346503delinsGT	GRCh38
NC_000001.10:g.150318978_150318979delinsGT , CM000663.1:g.150318978_150318979delinsGT	GRCh37
NC_000001.9:g.148585602_148585603delinsGT	NCBI36
NG_008245.1:g.30051_30052delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+11_1843+12delinsGT MANE Select	ENSP00000315379.6:n.1843+11_1843+12delinsGT
ENST00000324862.6:c.1843+11_1843+12delinsGT	ENSP00000315379.6:n.1843+11_1843+12delinsGT
ENST00000467329.5:n.2170+11_2170+12delinsGT
ENST00000476970.1:n.952+11_952+12delinsGT
NM_004698.2:c.1843+11_1843+12delinsGT	NP_004689.1:n.1843+11_1843+12delinsGT
XM_011510128.1:c.1853+1_1853+2delinsGT	XP_011508430.1:n.1853+1_1853+2delinsGT
XM_011510129.1:c.1438+11_1438+12delinsGT	XP_011508431.1:n.1438+11_1438+12delinsGT
XM_011510130.1:c.1411+11_1411+12delinsGT	XP_011508432.1:n.1411+11_1411+12delinsGT
XR_241103.1:n.1826+11_1826+12delinsGT
XR_921997.1:n.1836+1_1836+2delinsGT
XR_921998.1:n.1940+11_1940+12delinsGT
NM_001350529.1:c.1438+11_1438+12delinsGT	NP_001337458.1:n.1438+11_1438+12delinsGT
NM_004698.3:c.1843+11_1843+12delinsGT	NP_004689.1:n.1843+11_1843+12delinsGT
NR_146766.1:n.2074+11_2074+12delinsGT
NR_146767.1:n.2170+11_2170+12delinsGT
NR_146768.1:n.2026+1_2026+2delinsGT
NR_146769.1:n.2079+1_2079+2delinsGT
XM_011510130.3:c.1411+11_1411+12delinsGT	XP_011508432.1:n.1411+11_1411+12delinsGT
XM_017002790.1:c.1411+11_1411+12delinsGT	XP_016858279.1:n.1411+11_1411+12delinsGT
XR_001737536.2:n.1876+11_1876+12delinsGT
XR_001737537.2:n.1990+11_1990+12delinsGT
XR_001737540.2:n.2747+11_2747+12delinsGT
XR_001737541.2:n.1770+11_1770+12delinsGT
XR_002958009.1:n.2500+11_2500+12delinsGT
XR_002958010.1:n.3746+1_3746+2delinsGT
XR_002958012.1:n.1942+1_1942+2delinsGT
XR_241103.3:n.1818+11_1818+12delinsGT
XR_921997.3:n.1828+1_1828+2delinsGT
XR_921998.3:n.1932+11_1932+12delinsGT
NM_004698.4:c.1843+11_1843+12delinsGT MANE Select	NP_004689.1:n.1843+11_1843+12delinsGT