Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346625_150346626insAGA , CM000663.2:g.150346625_150346626insAGA	GRCh38
NC_000001.10:g.150319101_150319102insAGA , CM000663.1:g.150319101_150319102insAGA	GRCh37
NC_000001.9:g.148585725_148585726insAGA	NCBI36
NG_008245.1:g.30174_30175insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+134_1843+135insAGA MANE Select	ENSP00000315379.6:n.1843+134_1843+135insAGA
ENST00000324862.6:c.1843+134_1843+135insAGA	ENSP00000315379.6:n.1843+134_1843+135insAGA
ENST00000467329.5:n.2170+134_2170+135insAGA
ENST00000476970.1:n.952+134_952+135insAGA
NM_004698.2:c.1843+134_1843+135insAGA	NP_004689.1:n.1843+134_1843+135insAGA
XM_011510128.1:c.1853+124_1853+125insAGA	XP_011508430.1:n.1853+124_1853+125insAGA
XM_011510129.1:c.1438+134_1438+135insAGA	XP_011508431.1:n.1438+134_1438+135insAGA
XM_011510130.1:c.1411+134_1411+135insAGA	XP_011508432.1:n.1411+134_1411+135insAGA
XR_241103.1:n.1826+134_1826+135insAGA
XR_921997.1:n.1836+124_1836+125insAGA
XR_921998.1:n.1940+134_1940+135insAGA
NM_001350529.1:c.1438+134_1438+135insAGA	NP_001337458.1:n.1438+134_1438+135insAGA
NM_004698.3:c.1843+134_1843+135insAGA	NP_004689.1:n.1843+134_1843+135insAGA
NR_146766.1:n.2074+134_2074+135insAGA
NR_146767.1:n.2170+134_2170+135insAGA
NR_146768.1:n.2026+124_2026+125insAGA
NR_146769.1:n.2079+124_2079+125insAGA
XM_011510130.3:c.1411+134_1411+135insAGA	XP_011508432.1:n.1411+134_1411+135insAGA
XM_017002790.1:c.1411+134_1411+135insAGA	XP_016858279.1:n.1411+134_1411+135insAGA
XR_001737536.2:n.1876+134_1876+135insAGA
XR_001737537.2:n.1990+134_1990+135insAGA
XR_001737540.2:n.2747+134_2747+135insAGA
XR_001737541.2:n.1770+134_1770+135insAGA
XR_002958009.1:n.2500+134_2500+135insAGA
XR_002958010.1:n.3746+124_3746+125insAGA
XR_002958012.1:n.1942+124_1942+125insAGA
XR_241103.3:n.1818+134_1818+135insAGA
XR_921997.3:n.1828+124_1828+125insAGA
XR_921998.3:n.1932+134_1932+135insAGA
NM_004698.4:c.1843+134_1843+135insAGA MANE Select	NP_004689.1:n.1843+134_1843+135insAGA