Canonical Allele Identifier: CA51729482

Gene: GGCX

Linked Data

• dbSNP Id: rs11415157
• gnomAD v2: 2-85773539-T-TA
• gnomAD v3: 2-85546416-T-TA
• gnomAD v4: 2-85546416-T-TA
• MyVariant Identifiers: chr2:g.85773544_85773545insA (hg19) ; chr2:g.85773539_85773540insA (hg19) ; chr2:g.85546421_85546422insA (hg38) ; chr2:g.85546416_85546417insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546425dup , CM000664.2:g.85546425dup	GRCh38
NC_000002.11:g.85773548dup , CM000664.1:g.85773548dup	GRCh37
NC_000002.10:g.85627059dup	NCBI36
NG_011811.2:g.20118dup
NG_029183.1:g.12448dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*3517dup MANE Select	ENSP00000233838.3:n.*3517dup
ENST00000233838.8:c.*3517dup	ENSP00000233838.3:n.*3517dup
NM_000821.5:c.*3517dup	NP_000812.2:n.*3517dup
NM_000821.6:c.*3517dup	NP_000812.2:n.*3517dup
NM_001142269.2:c.*3517dup	NP_001135741.1:n.*3517dup
NM_001142269.3:c.*3517dup	NP_001135741.1:n.*3517dup
NM_000821.7:c.*3517dup MANE Select	NP_000812.2:n.*3517dup
NM_001142269.4:c.*3517dup	NP_001135741.1:n.*3517dup