Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915199_68915200insTTT , CM000673.2:g.68915199_68915200insTTT	GRCh38
NC_000011.9:g.68682667_68682668insTTT , CM000673.1:g.68682667_68682668insTTT	GRCh37
NC_000011.8:g.68439243_68439244insTTT	NCBI36
NG_007976.1:g.16349_16350insTTT , LRG_250:g.16349_16350insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+176_912+177insTTT MANE Select	ENSP00000255078.4:n.912+176_912+177insTTT
ENST00000539224.2:c.1041+176_1041+177insTTT
ENST00000674955.1:c.912+176_912+177insTTT	ENSP00000502463.1:n.912+176_912+177insTTT
ENST00000675118.1:c.259+176_259+177insTTT
ENST00000675119.1:c.201+176_201+177insTTT	ENSP00000501861.1:n.201+176_201+177insTTT
ENST00000675305.1:c.201+176_201+177insTTT	ENSP00000502365.1:n.201+176_201+177insTTT
ENST00000675464.1:c.195+182_195+183insTTT	ENSP00000502650.1:n.195+182_195+183insTTT
ENST00000675615.1:c.912+176_912+177insTTT	ENSP00000502413.1:n.912+176_912+177insTTT
ENST00000675683.1:c.299+176_299+177insTTT
ENST00000676173.1:n.956+176_956+177insTTT
ENST00000676228.1:c.235+176_235+177insTTT	ENSP00000502375.1:n.235+176_235+177insTTT
ENST00000255078.7:c.912+176_912+177insTTT	ENSP00000255078.3:n.912+176_912+177insTTT
NM_002180.2:c.912+176_912+177insTTT , LRG_250t1:c.912+176_912+177insTTT	NP_002171.2:n.912+176_912+177insTTT
XM_005273974.2:c.-100+176_-100+177insTTT	XP_005274031.1:n.-100+176_-100+177insTTT
XM_005273976.1:c.912+176_912+177insTTT	XP_005274033.1:n.912+176_912+177insTTT
XR_247198.1:n.1014+176_1014+177insTTT
XR_949903.1:n.1014+176_1014+177insTTT
XM_005273976.2:c.912+176_912+177insTTT	XP_005274033.1:n.912+176_912+177insTTT
XM_017017669.2:c.-100+176_-100+177insTTT	XP_016873158.1:n.-100+176_-100+177insTTT
XM_017017670.2:c.-100+176_-100+177insTTT	XP_016873159.1:n.-100+176_-100+177insTTT
XM_017017671.2:c.912+176_912+177insTTT	XP_016873160.1:n.912+176_912+177insTTT
XR_949903.3:n.1010+176_1010+177insTTT
NM_002180.3:c.912+176_912+177insTTT MANE Select	NP_002171.2:n.912+176_912+177insTTT