Canonical Allele Identifier: CA1033078216
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691676795

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546581_85546596del , CM000664.2:g.85546581_85546596del GRCh38
NC_000002.11:g.85773704_85773719del , CM000664.1:g.85773704_85773719del GRCh37
NC_000002.10:g.85627215_85627230del NCBI36
NG_011811.2:g.19942_19957del
NG_029183.1:g.12604_12619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3341_*3356del MANE Select ENSP00000233838.3:n.*3341_*3356del
ENST00000233838.8:c.*3341_*3356del ENSP00000233838.3:n.*3341_*3356del
NM_000821.5:c.*3341_*3356del NP_000812.2:n.*3341_*3356del
NM_000821.6:c.*3341_*3356del NP_000812.2:n.*3341_*3356del
NM_001142269.2:c.*3341_*3356del NP_001135741.1:n.*3341_*3356del
NM_001142269.3:c.*3341_*3356del NP_001135741.1:n.*3341_*3356del
NM_000821.7:c.*3341_*3356del MANE Select NP_000812.2:n.*3341_*3356del
NM_001142269.4:c.*3341_*3356del NP_001135741.1:n.*3341_*3356del