Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370380_32370381delinsAT , CM000675.2:g.32370380_32370381delinsAT	GRCh38
NC_000013.10:g.32944517_32944518delinsAT , CM000675.1:g.32944517_32944518delinsAT	GRCh37
NC_000013.9:g.31842517_31842518delinsAT	NCBI36
NG_012772.3:g.59901_59902delinsAT , LRG_293:g.59901_59902delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8332-22_8332-21delinsAT	ENSP00000434898.2:n.8332-22_8332-21delinsAT
ENST00000528762.2:c.8332-22_8332-21delinsAT	ENSP00000433168.2:n.8332-22_8332-21delinsAT
ENST00000530893.7:c.7963-22_7963-21delinsAT	ENSP00000499438.2:n.7963-22_7963-21delinsAT
ENST00000665585.2:c.8332-22_8332-21delinsAT	ENSP00000499570.2:n.8332-22_8332-21delinsAT
ENST00000666593.2:c.8332-22_8332-21delinsAT	ENSP00000499256.2:n.8332-22_8332-21delinsAT
ENST00000700202.2:c.8332-22_8332-21delinsAT	ENSP00000514856.2:n.8332-22_8332-21delinsAT
ENST00000700202.1:c.799-22_799-21delinsAT	ENSP00000514856.1:n.799-22_799-21delinsAT
ENST00000380152.8:c.8332-22_8332-21delinsAT MANE Select	ENSP00000369497.3:n.8332-22_8332-21delinsAT
ENST00000544455.6:c.8332-22_8332-21delinsAT	ENSP00000439902.1:n.8332-22_8332-21delinsAT
ENST00000614259.2:c.8340-22_8340-21delinsAT	ENSP00000506251.1:n.8340-22_8340-21delinsAT
ENST00000665585.1:c.897-22_897-21delinsAT
ENST00000680887.1:c.8332-22_8332-21delinsAT	ENSP00000505508.1:n.8332-22_8332-21delinsAT
ENST00000380152.7:c.8332-22_8332-21delinsAT	ENSP00000369497.3:n.8332-22_8332-21delinsAT
ENST00000544455.5:c.8332-22_8332-21delinsAT	ENSP00000439902.1:n.8332-22_8332-21delinsAT
NM_000059.3:c.8332-22_8332-21delinsAT , LRG_293t1:c.8332-22_8332-21delinsAT	NP_000050.2:n.8332-22_8332-21delinsAT
XM_011535203.1:c.8332-22_8332-21delinsAT	XP_011533505.1:n.8332-22_8332-21delinsAT
XM_011535204.1:c.8236-22_8236-21delinsAT	XP_011533506.1:n.8236-22_8236-21delinsAT
XM_011535205.1:c.8332-22_8332-21delinsAT	XP_011533507.1:n.8332-22_8332-21delinsAT
NM_000059.4:c.8332-22_8332-21delinsAT MANE Select	NP_000050.3:n.8332-22_8332-21delinsAT