Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99876398_99876403delinsTTTATA , CM000663.2:g.99876398_99876403delinsTTTATA	GRCh38
NC_000001.10:g.100341954_100341959delinsTTTATA , CM000663.1:g.100341954_100341959delinsTTTATA	GRCh37
NC_000001.9:g.100114542_100114547delinsTTTATA	NCBI36
NG_012865.1:g.31315_31320delinsTTTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1284-60_1284-55delinsTTTATA MANE Select	ENSP00000355106.3:n.1284-60_1284-55delinsTTTATA
ENST00000637337.1:n.1495-60_1495-55delinsTTTATA
ENST00000294724.8:c.1284-60_1284-55delinsTTTATA	ENSP00000294724.4:n.1284-60_1284-55delinsTTTATA
ENST00000361302.7:c.1236-60_1236-55delinsTTTATA	ENSP00000354971.3:n.1236-60_1236-55delinsTTTATA
ENST00000361522.4:c.1233-60_1233-55delinsTTTATA	ENSP00000354635.4:n.1233-60_1233-55delinsTTTATA
ENST00000361915.7:c.1284-60_1284-55delinsTTTATA	ENSP00000355106.3:n.1284-60_1284-55delinsTTTATA
ENST00000370161.6:c.1236-60_1236-55delinsTTTATA	ENSP00000359180.2:n.1236-60_1236-55delinsTTTATA
ENST00000370163.7:c.1284-60_1284-55delinsTTTATA	ENSP00000359182.3:n.1284-60_1284-55delinsTTTATA
ENST00000370165.7:c.1284-60_1284-55delinsTTTATA	ENSP00000359184.3:n.1284-60_1284-55delinsTTTATA
ENST00000477753.1:n.543-60_543-55delinsTTTATA
NM_000028.2:c.1284-60_1284-55delinsTTTATA	NP_000019.2:n.1284-60_1284-55delinsTTTATA
NM_000642.2:c.1284-60_1284-55delinsTTTATA	NP_000633.2:n.1284-60_1284-55delinsTTTATA
NM_000643.2:c.1284-60_1284-55delinsTTTATA	NP_000634.2:n.1284-60_1284-55delinsTTTATA
NM_000644.2:c.1284-60_1284-55delinsTTTATA	NP_000635.2:n.1284-60_1284-55delinsTTTATA
NM_000645.2:c.1233-60_1233-55delinsTTTATA	NP_000636.2:n.1233-60_1233-55delinsTTTATA
NM_000646.2:c.1236-60_1236-55delinsTTTATA	NP_000637.2:n.1236-60_1236-55delinsTTTATA
XM_005270557.1:c.1284-60_1284-55delinsTTTATA	XP_005270614.1:n.1284-60_1284-55delinsTTTATA
XM_005270557.2:c.1284-60_1284-55delinsTTTATA	XP_005270614.1:n.1284-60_1284-55delinsTTTATA
NM_000642.3:c.1284-60_1284-55delinsTTTATA MANE Select	NP_000633.2:n.1284-60_1284-55delinsTTTATA