Canonical Allele Identifier: CA2573147502
Gene: TCIRG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412275
ClinVar RCV Id: RCV001943160
dbSNP Id: rs2134459337

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68048891_68048892delinsAG , CM000673.2:g.68048891_68048892delinsAG GRCh38
NC_000011.9:g.67816358_67816359delinsAG , CM000673.1:g.67816358_67816359delinsAG GRCh37
NC_000011.8:g.67572934_67572935delinsAG NCBI36
NG_007878.1:g.14876_14877delinsAG , LRG_115:g.14876_14877delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000530449.2:n.192_193delinsAG
ENST00000698254.1:c.1096_1097delinsAG ENSP00000513629.1:p.Ala366Ser
ENST00000698255.1:c.1516_1517delinsAG ENSP00000513630.1:p.Ala506Ser
ENST00000698256.1:c.1033_1034delinsAG
ENST00000698257.1:n.985_986delinsAG
ENST00000698258.1:n.702_703delinsAG
ENST00000698259.1:n.468_469delinsAG
ENST00000265686.8:c.1567_1568delinsAG MANE Select ENSP00000265686.3:p.Ala523Ser
ENST00000265686.7:c.1567_1568delinsAG ENSP00000265686.3:p.Ala523Ser
ENST00000525724.5:n.879_880delinsAG
ENST00000528981.5:c.719_720delinsAG
ENST00000532635.5:c.919_920delinsAG ENSP00000434407.1:p.Ala307Ser
ENST00000533005.5:n.680_681delinsAG
NM_006019.3:c.1567_1568delinsAG NP_006010.2:p.Ala523Ser
NM_006053.3:c.919_920delinsAG NP_006044.1:p.Ala307Ser
XM_005273709.2:c.1567_1568delinsAG XP_005273766.1:p.Ala523Ser
XM_011544726.1:c.1567_1568delinsAG XP_011543028.1:p.Ala523Ser
XM_011544727.1:c.1567_1568delinsAG XP_011543029.1:p.Ala523Ser
XM_011544728.1:c.1567_1568delinsAG XP_011543030.1:p.Ala523Ser
XR_949754.1:n.1571_1572delinsAG
NM_001351059.1:c.673_674delinsAG NP_001337988.1:p.Ala225Ser
XM_024448320.1:c.1660_1661delinsAG XP_024304088.1:p.Ala554Ser
XM_024448321.1:c.1660_1661delinsAG XP_024304089.1:p.Ala554Ser
XM_024448322.1:c.1660_1661delinsAG XP_024304090.1:p.Ala554Ser
XM_024448323.1:c.1660_1661delinsAG XP_024304091.1:p.Ala554Ser
XM_024448324.1:c.1660_1661delinsAG XP_024304092.1:p.Ala554Ser
XR_001747721.2:n.1691_1692delinsAG
XR_001747722.1:n.1704_1705delinsAG
XR_001747723.2:n.1704_1705delinsAG
XR_002957115.1:n.1782_1783delinsAG
NM_006019.4:c.1567_1568delinsAG MANE Select NP_006010.2:p.Ala523Ser
NM_001351059.2:c.673_674delinsAG NP_001337988.1:p.Ala225Ser
NM_006053.4:c.919_920delinsAG NP_006044.1:p.Ala307Ser