Canonical Allele Identifier: CA6147120

Gene: TCIRG1

Linked Data

• dbSNP Id: rs777063670
• ExAC: 11:67815305 C / CG
• gnomAD v2: 11-67815305-C-CG
• gnomAD v4: 11-68047838-C-CG
• MyVariant Identifiers: chr11:g.67815305_67815306insG (hg19) ; chr11:g.68047838_68047839insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047839dup , CM000673.2:g.68047839dup	GRCh38
NC_000011.9:g.67815306dup , CM000673.1:g.67815306dup	GRCh37
NC_000011.8:g.67571882dup	NCBI36
NG_007878.1:g.13824dup , LRG_115:g.13824dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.88+35dup
ENST00000698254.1:c.992+35dup	ENSP00000513629.1:n.992+35dup
ENST00000698255.1:c.1412+35dup	ENSP00000513630.1:n.1412+35dup
ENST00000698256.1:c.929+35dup
ENST00000698257.1:n.881+35dup
ENST00000698258.1:n.556dup
ENST00000698259.1:n.322dup
ENST00000265686.8:c.1463+35dup MANE Select	ENSP00000265686.3:n.1463+35dup
ENST00000265686.7:c.1463+35dup	ENSP00000265686.3:n.1463+35dup
ENST00000525516.1:n.257+35dup
ENST00000525724.5:n.775+35dup
ENST00000528981.5:c.615+35dup
ENST00000532635.5:c.815+35dup	ENSP00000434407.1:n.815+35dup
ENST00000533005.5:n.534dup
NM_006019.3:c.1463+35dup	NP_006010.2:n.1463+35dup
NM_006053.3:c.815+35dup	NP_006044.1:n.815+35dup
XM_005273709.2:c.1463+35dup	XP_005273766.1:n.1463+35dup
XM_011544726.1:c.1463+35dup	XP_011543028.1:n.1463+35dup
XM_011544727.1:c.1463+35dup	XP_011543029.1:n.1463+35dup
XM_011544728.1:c.1463+35dup	XP_011543030.1:n.1463+35dup
XM_011544729.1:c.1479+35dup	XP_011543031.1:n.1479+35dup
XR_949754.1:n.1467+35dup
NM_001351059.1:c.569+35dup	NP_001337988.1:n.569+35dup
XM_024448320.1:c.1514dup	XP_024304088.1:p.Ser506GlnfsTer6
XM_024448321.1:c.1514dup	XP_024304089.1:p.Ser506GlnfsTer6
XM_024448322.1:c.1514dup	XP_024304090.1:p.Ser506GlnfsTer6
XM_024448323.1:c.1514dup	XP_024304091.1:p.Ser506GlnfsTer6
XM_024448324.1:c.1514dup	XP_024304092.1:p.Ser506GlnfsTer6
XR_001747721.2:n.1587+35dup
XR_001747722.1:n.1600+35dup
XR_001747723.2:n.1600+35dup
XR_002957115.1:n.1636dup
NM_006019.4:c.1463+35dup MANE Select	NP_006010.2:n.1463+35dup
NM_001351059.2:c.569+35dup	NP_001337988.1:n.569+35dup
NM_006053.4:c.815+35dup	NP_006044.1:n.815+35dup