Canonical Allele Identifier: CA537098310

Gene: GCA

Linked Data

• dbSNP Id: rs1263127574
• gnomAD v2: 2-163207546-TAATA-T
• gnomAD v3: 2-162351036-TAATA-T
• gnomAD v4: 2-162351036-TAATA-T
• MyVariant Identifiers: chr2:g.163207547_163207550del (hg19) ; chr2:g.162351037_162351040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162351038_162351041del , CM000664.2:g.162351038_162351041del	GRCh38
NC_000002.11:g.163207548_163207551del , CM000664.1:g.163207548_163207551del	GRCh37
NC_000002.10:g.162915794_162915797del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437150.7:c.193-1300_193-1297del MANE Select	ENSP00000394842.2:n.193-1300_193-1297del
ENST00000233612.8:c.136-1300_136-1297del	ENSP00000233612.4:n.136-1300_136-1297del
ENST00000429691.6:c.136-1300_136-1297del	ENSP00000412899.2:n.136-1300_136-1297del
ENST00000437150.6:c.193-1300_193-1297del	ENSP00000394842.2:n.193-1300_193-1297del
ENST00000446271.5:c.271-1300_271-1297del	ENSP00000393218.1:n.271-1300_271-1297del
ENST00000453113.6:c.136-1300_136-1297del	ENSP00000403805.2:n.136-1300_136-1297del
ENST00000473240.5:n.624-1300_624-1297del
ENST00000479199.1:n.260-1300_260-1297del
ENST00000481161.5:n.308-1300_308-1297del
ENST00000487445.6:n.283-1300_283-1297del
NM_012198.3:c.193-1300_193-1297del	NP_036330.1:n.193-1300_193-1297del
XM_005246446.2:c.193-1300_193-1297del	XP_005246503.1:n.193-1300_193-1297del
XM_006712398.2:c.271-1300_271-1297del	XP_006712461.1:n.271-1300_271-1297del
XM_006712399.2:c.271-1300_271-1297del	XP_006712462.1:n.271-1300_271-1297del
XM_006712400.2:c.238-1300_238-1297del	XP_006712463.1:n.238-1300_238-1297del
XM_006712401.2:c.271-1300_271-1297del	XP_006712464.1:n.271-1300_271-1297del
XM_011510926.1:c.136-1300_136-1297del	XP_011509228.1:n.136-1300_136-1297del
XM_011510927.1:c.136-1300_136-1297del	XP_011509229.1:n.136-1300_136-1297del
NM_001330265.1:c.238-1300_238-1297del	NP_001317194.1:n.238-1300_238-1297del
NM_001330266.1:c.238-1300_238-1297del	NP_001317195.1:n.238-1300_238-1297del
NM_001330267.1:c.238-1300_238-1297del	NP_001317196.1:n.238-1300_238-1297del
NM_001330268.1:c.271-1300_271-1297del	NP_001317197.1:n.271-1300_271-1297del
NM_001330270.1:c.136-1300_136-1297del	NP_001317199.1:n.136-1300_136-1297del
NM_001330271.1:c.136-1300_136-1297del	NP_001317200.1:n.136-1300_136-1297del
NM_012198.4:c.193-1300_193-1297del	NP_036330.1:n.193-1300_193-1297del
XM_005246446.3:c.193-1300_193-1297del	XP_005246503.1:n.193-1300_193-1297del
XM_006712398.4:c.271-1300_271-1297del	XP_006712461.1:n.271-1300_271-1297del
XM_006712400.4:c.238-1300_238-1297del	XP_006712463.1:n.238-1300_238-1297del
XM_011510926.2:c.136-1300_136-1297del	XP_011509228.1:n.136-1300_136-1297del
XM_017003767.1:c.136-1300_136-1297del	XP_016859256.1:n.136-1300_136-1297del
XM_017003769.2:c.271-1300_271-1297del	XP_016859258.1:n.271-1300_271-1297del
NM_012198.5:c.193-1300_193-1297del MANE Select	NP_036330.1:n.193-1300_193-1297del
NM_001330270.2:c.136-1300_136-1297del	NP_001317199.1:n.136-1300_136-1297del
NM_001330271.2:c.136-1300_136-1297del	NP_001317200.1:n.136-1300_136-1297del