Canonical Allele Identifier: CA521451251

Gene: CA6

Linked Data

• dbSNP Id: rs1274617534
• gnomAD v2: 1-9017241-G-GTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT
• MyVariant Identifiers: chr1:g.9017241_9017242insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (hg19) ; chr1:g.8957182_8957183insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957182_8957183insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT , CM000663.2:g.8957182_8957183insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	GRCh38
NC_000001.10:g.9017241_9017242insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT , CM000663.1:g.9017241_9017242insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	GRCh37
NC_000001.9:g.8939828_8939829insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NCBI36
NG_033975.1:g.16349_16350insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT MANE Select	ENSP00000366662.2:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerL...
ENST00000377436.6:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	ENSP00000366654.3:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerL...
ENST00000377442.3:c.125_126insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	ENSP00000366661.2:p.Gly42_Thr43insTrpGluAlaGluAlaGlyGlySerLeu...
ENST00000377443.6:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	ENSP00000366662.2:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerL...
ENST00000476083.1:n.99-1728_99-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT
ENST00000549778.5:c.209_210insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	ENSP00000447108.1:p.Gly70_Thr71insTrpGluAlaGluAlaGlyGlySerLeu...
NM_001215.3:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001206.2:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuGluV...
NM_001270500.1:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257429.1:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuG...
NM_001270501.1:c.125_126insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257430.1:p.Gly42_Thr43insTrpGluAlaGluAlaGlyGlySerLeuGlu...
NM_001270502.1:c.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257431.1:n.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCAC...
XM_011542083.1:c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	XP_011540385.1:p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuG...
XM_011542084.1:c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	XP_011540386.1:p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuG...
XM_011542083.3:c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	XP_011540385.1:p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuG...
XM_011542084.3:c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	XP_011540386.1:p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuG...
NM_001215.4:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT MANE Select	NP_001206.2:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuGluV...
NM_001270500.2:c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257429.1:p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuG...
NM_001270501.2:c.125_126insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257430.1:p.Gly42_Thr43insTrpGluAlaGluAlaGlyGlySerLeuGlu...
NM_001270502.2:c.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT	NP_001257431.1:n.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCAC...