Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921752_99921754delinsTCA , CM000663.2:g.99921752_99921754delinsTCA	GRCh38
NC_000001.10:g.100387308_100387310delinsTCA , CM000663.1:g.100387308_100387310delinsTCA	GRCh37
NC_000001.9:g.100159896_100159898delinsTCA	NCBI36
NG_012865.1:g.76669_76671delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.101_103delinsTCA MANE Select	ENSP00000355106.3:n.101_103delinsTCA
ENST00000637337.1:n.4911_4913delinsTCA
ENST00000294724.8:c.101_103delinsTCA	ENSP00000294724.4:n.101_103delinsTCA
ENST00000361302.7:c.101_103delinsTCA	ENSP00000354971.3:n.101_103delinsTCA
ENST00000361522.4:c.101_103delinsTCA	ENSP00000354635.4:n.101_103delinsTCA
ENST00000361915.7:c.101_103delinsTCA	ENSP00000355106.3:n.101_103delinsTCA
ENST00000370161.6:c.4652_4654delinsTCA	ENSP00000359180.2:n.4652_4654delinsTCA
ENST00000370163.7:c.101_103delinsTCA	ENSP00000359182.3:n.101_103delinsTCA
ENST00000370165.7:c.101_103delinsTCA	ENSP00000359184.3:n.101_103delinsTCA
NM_000028.2:c.101_103delinsTCA	NP_000019.2:n.101_103delinsTCA
NM_000642.2:c.101_103delinsTCA	NP_000633.2:n.101_103delinsTCA
NM_000643.2:c.101_103delinsTCA	NP_000634.2:n.101_103delinsTCA
NM_000644.2:c.101_103delinsTCA	NP_000635.2:n.101_103delinsTCA
NM_000645.2:c.101_103delinsTCA	NP_000636.2:n.101_103delinsTCA
NM_000646.2:c.101_103delinsTCA	NP_000637.2:n.101_103delinsTCA
XM_005270557.1:c.101_103delinsTCA	XP_005270614.1:n.101_103delinsTCA
XR_947626.1:n.1317+2484_1317+2486delinsTGA
XR_947627.1:n.1206+2484_1206+2486delinsTGA
XR_947628.1:n.1311+2484_1311+2486delinsTGA
XR_947630.1:n.1249+2484_1249+2486delinsTGA
XR_947632.1:n.1135+2484_1135+2486delinsTGA
XR_947633.1:n.1246+2484_1246+2486delinsTGA
XR_947634.1:n.660+2484_660+2486delinsTGA
XR_947635.1:n.728+2484_728+2486delinsTGA
XM_005270557.2:c.101_103delinsTCA	XP_005270614.1:n.101_103delinsTCA
XM_017000501.2:c.101_103delinsTCA	XP_016855990.1:n.101_103delinsTCA
NM_000642.3:c.101_103delinsTCA MANE Select	NP_000633.2:n.101_103delinsTCA

HGVS	Amino-acid Change
ENST00000361915.8:c.101_103delinsTCA MANE Select	ENSP00000355106.3:n.101_103delinsTCA
ENST00000637337.1:n.4911_4913delinsTCA
ENST00000294724.8:c.101_103delinsTCA	ENSP00000294724.4:n.101_103delinsTCA
ENST00000361302.7:c.101_103delinsTCA	ENSP00000354971.3:n.101_103delinsTCA
ENST00000361522.4:c.101_103delinsTCA	ENSP00000354635.4:n.101_103delinsTCA
ENST00000361915.7:c.101_103delinsTCA	ENSP00000355106.3:n.101_103delinsTCA
ENST00000370161.6:c.4652_4654delinsTCA	ENSP00000359180.2:n.4652_4654delinsTCA
ENST00000370163.7:c.101_103delinsTCA	ENSP00000359182.3:n.101_103delinsTCA
ENST00000370165.7:c.101_103delinsTCA	ENSP00000359184.3:n.101_103delinsTCA
NM_000028.2:c.101_103delinsTCA	NP_000019.2:n.101_103delinsTCA
NM_000642.2:c.101_103delinsTCA	NP_000633.2:n.101_103delinsTCA
NM_000643.2:c.101_103delinsTCA	NP_000634.2:n.101_103delinsTCA
NM_000644.2:c.101_103delinsTCA	NP_000635.2:n.101_103delinsTCA
NM_000645.2:c.101_103delinsTCA	NP_000636.2:n.101_103delinsTCA
NM_000646.2:c.101_103delinsTCA	NP_000637.2:n.101_103delinsTCA
XM_005270557.1:c.101_103delinsTCA	XP_005270614.1:n.101_103delinsTCA
XR_947626.1:n.1317+2484_1317+2486delinsTGA
XR_947627.1:n.1206+2484_1206+2486delinsTGA
XR_947628.1:n.1311+2484_1311+2486delinsTGA
XR_947630.1:n.1249+2484_1249+2486delinsTGA
XR_947632.1:n.1135+2484_1135+2486delinsTGA
XR_947633.1:n.1246+2484_1246+2486delinsTGA
XR_947634.1:n.660+2484_660+2486delinsTGA
XR_947635.1:n.728+2484_728+2486delinsTGA
XM_005270557.2:c.101_103delinsTCA	XP_005270614.1:n.101_103delinsTCA
XM_017000501.2:c.101_103delinsTCA	XP_016855990.1:n.101_103delinsTCA
NM_000642.3:c.101_103delinsTCA MANE Select	NP_000633.2:n.101_103delinsTCA