Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150560390_150560391insGACAGAGGAGGCC , CM000663.2:g.150560390_150560391insGACAGAGGAGGCC	GRCh38
NC_000001.10:g.150532866_150532867insGACAGAGGAGGCC , CM000663.1:g.150532866_150532867insGACAGAGGAGGCC	GRCh37
NC_000001.9:g.148799490_148799491insGACAGAGGAGGCC	NCBI36
NG_012172.1:g.15969_15970insGACAGAGGAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.194_195insGACAGAGGAGGCC MANE Select	ENSP00000271643.4:n.194_195insGACAGAGGAGGCC
ENST00000674043.1:c.194_195insGACAGAGGAGGCC	ENSP00000501295.1:n.194_195insGACAGAGGAGGCC
ENST00000674058.1:c.194_195insGACAGAGGAGGCC	ENSP00000501255.1:n.194_195insGACAGAGGAGGCC
ENST00000271643.8:c.194_195insGACAGAGGAGGCC	ENSP00000271643.4:n.194_195insGACAGAGGAGGCC
ENST00000369038.6:c.194_195insGACAGAGGAGGCC	ENSP00000358034.2:n.194_195insGACAGAGGAGGCC
ENST00000369039.9:c.194_195insGACAGAGGAGGCC	ENSP00000358035.5:n.194_195insGACAGAGGAGGCC
ENST00000489159.1:n.1256_1257insGACAGAGGAGGCC
ENST00000622417.4:c.723_724insGACAGAGGAGGCC	ENSP00000477897.1:n.723_724insGACAGAGGAGGCC
NM_001288607.1:c.194_195insGACAGAGGAGGCC	NP_001275536.1:n.194_195insGACAGAGGAGGCC
NM_001288608.1:c.194_195insGACAGAGGAGGCC	NP_001275537.1:n.194_195insGACAGAGGAGGCC
NM_019032.5:c.194_195insGACAGAGGAGGCC	NP_061905.2:n.194_195insGACAGAGGAGGCC
XM_011509644.1:c.194_195insGACAGAGGAGGCC	XP_011507946.1:n.194_195insGACAGAGGAGGCC
XM_011509645.1:c.194_195insGACAGAGGAGGCC	XP_011507947.1:n.194_195insGACAGAGGAGGCC
XM_011509646.1:c.194_195insGACAGAGGAGGCC	XP_011507948.1:n.194_195insGACAGAGGAGGCC
XM_011509647.1:c.194_195insGACAGAGGAGGCC	XP_011507949.1:n.194_195insGACAGAGGAGGCC
XM_011509648.1:c.194_195insGACAGAGGAGGCC	XP_011507950.1:n.194_195insGACAGAGGAGGCC
XM_011509651.1:c.194_195insGACAGAGGAGGCC	XP_011507953.1:n.194_195insGACAGAGGAGGCC
XM_011509652.1:c.194_195insGACAGAGGAGGCC	XP_011507954.1:n.194_195insGACAGAGGAGGCC
XR_921844.1:n.3988_3989insGACAGAGGAGGCC
XM_011509644.3:c.194_195insGACAGAGGAGGCC	XP_011507946.1:n.194_195insGACAGAGGAGGCC
XM_011509645.3:c.194_195insGACAGAGGAGGCC	XP_011507947.1:n.194_195insGACAGAGGAGGCC
XM_011509648.3:c.194_195insGACAGAGGAGGCC	XP_011507950.1:n.194_195insGACAGAGGAGGCC
XM_011509651.2:c.194_195insGACAGAGGAGGCC	XP_011507953.1:n.194_195insGACAGAGGAGGCC
XM_011509652.2:c.194_195insGACAGAGGAGGCC	XP_011507954.1:n.194_195insGACAGAGGAGGCC
XM_017001506.2:c.194_195insGACAGAGGAGGCC	XP_016856995.1:n.194_195insGACAGAGGAGGCC
XM_017001507.1:c.194_195insGACAGAGGAGGCC	XP_016856996.1:n.194_195insGACAGAGGAGGCC
XR_921844.3:n.3961_3962insGACAGAGGAGGCC
NM_001288607.2:c.194_195insGACAGAGGAGGCC	NP_001275536.1:n.194_195insGACAGAGGAGGCC
NM_001288608.2:c.194_195insGACAGAGGAGGCC	NP_001275537.1:n.194_195insGACAGAGGAGGCC
NM_001378596.1:c.194_195insGACAGAGGAGGCC	NP_001365525.1:n.194_195insGACAGAGGAGGCC
NM_019032.6:c.194_195insGACAGAGGAGGCC MANE Select	NP_061905.2:n.194_195insGACAGAGGAGGCC

HGVS	Amino-acid Change
ENST00000271643.9:c.194_195insGACAGAGGAGGCC MANE Select	ENSP00000271643.4:n.194_195insGACAGAGGAGGCC
ENST00000674043.1:c.194_195insGACAGAGGAGGCC	ENSP00000501295.1:n.194_195insGACAGAGGAGGCC
ENST00000674058.1:c.194_195insGACAGAGGAGGCC	ENSP00000501255.1:n.194_195insGACAGAGGAGGCC
ENST00000271643.8:c.194_195insGACAGAGGAGGCC	ENSP00000271643.4:n.194_195insGACAGAGGAGGCC
ENST00000369038.6:c.194_195insGACAGAGGAGGCC	ENSP00000358034.2:n.194_195insGACAGAGGAGGCC
ENST00000369039.9:c.194_195insGACAGAGGAGGCC	ENSP00000358035.5:n.194_195insGACAGAGGAGGCC
ENST00000489159.1:n.1256_1257insGACAGAGGAGGCC
ENST00000622417.4:c.723_724insGACAGAGGAGGCC	ENSP00000477897.1:n.723_724insGACAGAGGAGGCC
NM_001288607.1:c.194_195insGACAGAGGAGGCC	NP_001275536.1:n.194_195insGACAGAGGAGGCC
NM_001288608.1:c.194_195insGACAGAGGAGGCC	NP_001275537.1:n.194_195insGACAGAGGAGGCC
NM_019032.5:c.194_195insGACAGAGGAGGCC	NP_061905.2:n.194_195insGACAGAGGAGGCC
XM_011509644.1:c.194_195insGACAGAGGAGGCC	XP_011507946.1:n.194_195insGACAGAGGAGGCC
XM_011509645.1:c.194_195insGACAGAGGAGGCC	XP_011507947.1:n.194_195insGACAGAGGAGGCC
XM_011509646.1:c.194_195insGACAGAGGAGGCC	XP_011507948.1:n.194_195insGACAGAGGAGGCC
XM_011509647.1:c.194_195insGACAGAGGAGGCC	XP_011507949.1:n.194_195insGACAGAGGAGGCC
XM_011509648.1:c.194_195insGACAGAGGAGGCC	XP_011507950.1:n.194_195insGACAGAGGAGGCC
XM_011509651.1:c.194_195insGACAGAGGAGGCC	XP_011507953.1:n.194_195insGACAGAGGAGGCC
XM_011509652.1:c.194_195insGACAGAGGAGGCC	XP_011507954.1:n.194_195insGACAGAGGAGGCC
XR_921844.1:n.3988_3989insGACAGAGGAGGCC
XM_011509644.3:c.194_195insGACAGAGGAGGCC	XP_011507946.1:n.194_195insGACAGAGGAGGCC
XM_011509645.3:c.194_195insGACAGAGGAGGCC	XP_011507947.1:n.194_195insGACAGAGGAGGCC
XM_011509648.3:c.194_195insGACAGAGGAGGCC	XP_011507950.1:n.194_195insGACAGAGGAGGCC
XM_011509651.2:c.194_195insGACAGAGGAGGCC	XP_011507953.1:n.194_195insGACAGAGGAGGCC
XM_011509652.2:c.194_195insGACAGAGGAGGCC	XP_011507954.1:n.194_195insGACAGAGGAGGCC
XM_017001506.2:c.194_195insGACAGAGGAGGCC	XP_016856995.1:n.194_195insGACAGAGGAGGCC
XM_017001507.1:c.194_195insGACAGAGGAGGCC	XP_016856996.1:n.194_195insGACAGAGGAGGCC
XR_921844.3:n.3961_3962insGACAGAGGAGGCC
NM_001288607.2:c.194_195insGACAGAGGAGGCC	NP_001275536.1:n.194_195insGACAGAGGAGGCC
NM_001288608.2:c.194_195insGACAGAGGAGGCC	NP_001275537.1:n.194_195insGACAGAGGAGGCC
NM_001378596.1:c.194_195insGACAGAGGAGGCC	NP_001365525.1:n.194_195insGACAGAGGAGGCC
NM_019032.6:c.194_195insGACAGAGGAGGCC MANE Select	NP_061905.2:n.194_195insGACAGAGGAGGCC