Canonical Allele Identifier: CA1266820820
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546432_85546434delinsGAA , CM000664.2:g.85546432_85546434delinsGAA GRCh38
NC_000002.11:g.85773555_85773557delinsGAA , CM000664.1:g.85773555_85773557delinsGAA GRCh37
NC_000002.10:g.85627066_85627068delinsGAA NCBI36
NG_011811.2:g.20101_20103delinsTTC
NG_029183.1:g.12455_12457delinsGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3500_*3502delinsTTC MANE Select ENSP00000233838.3:n.*3500_*3502delinsTTC
ENST00000233838.8:c.*3500_*3502delinsTTC ENSP00000233838.3:n.*3500_*3502delinsTTC
NM_000821.5:c.*3500_*3502delinsTTC NP_000812.2:n.*3500_*3502delinsTTC
NM_000821.6:c.*3500_*3502delinsTTC NP_000812.2:n.*3500_*3502delinsTTC
NM_001142269.2:c.*3500_*3502delinsTTC NP_001135741.1:n.*3500_*3502delinsTTC
NM_001142269.3:c.*3500_*3502delinsTTC NP_001135741.1:n.*3500_*3502delinsTTC
NM_000821.7:c.*3500_*3502delinsTTC MANE Select NP_000812.2:n.*3500_*3502delinsTTC
NM_001142269.4:c.*3500_*3502delinsTTC NP_001135741.1:n.*3500_*3502delinsTTC