Canonical Allele Identifier: CA2699813727
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs2103934387

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546532_85546533del , CM000664.2:g.85546532_85546533del GRCh38
NC_000002.11:g.85773655_85773656del , CM000664.1:g.85773655_85773656del GRCh37
NC_000002.10:g.85627166_85627167del NCBI36
NG_011811.2:g.20002_20003del
NG_029183.1:g.12555_12556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3401_*3402del MANE Select ENSP00000233838.3:n.*3401_*3402del
ENST00000233838.8:c.*3401_*3402del ENSP00000233838.3:n.*3401_*3402del
NM_000821.5:c.*3401_*3402del NP_000812.2:n.*3401_*3402del
NM_000821.6:c.*3401_*3402del NP_000812.2:n.*3401_*3402del
NM_001142269.2:c.*3401_*3402del NP_001135741.1:n.*3401_*3402del
NM_001142269.3:c.*3401_*3402del NP_001135741.1:n.*3401_*3402del
NM_000821.7:c.*3401_*3402del MANE Select NP_000812.2:n.*3401_*3402del
NM_001142269.4:c.*3401_*3402del NP_001135741.1:n.*3401_*3402del