Canonical Allele Identifier: CA2601523188
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs2103933932
gnomAD v3: 2-85546457-CTGTA-C
gnomAD v4: 2-85546457-CTGTA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546458_85546461del , CM000664.2:g.85546458_85546461del GRCh38
NC_000002.11:g.85773581_85773584del , CM000664.1:g.85773581_85773584del GRCh37
NC_000002.10:g.85627092_85627095del NCBI36
NG_011811.2:g.20074_20077del
NG_029183.1:g.12481_12484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3473_*3476del MANE Select ENSP00000233838.3:n.*3473_*3476del
ENST00000233838.8:c.*3473_*3476del ENSP00000233838.3:n.*3473_*3476del
NM_000821.5:c.*3473_*3476del NP_000812.2:n.*3473_*3476del
NM_000821.6:c.*3473_*3476del NP_000812.2:n.*3473_*3476del
NM_001142269.2:c.*3473_*3476del NP_001135741.1:n.*3473_*3476del
NM_001142269.3:c.*3473_*3476del NP_001135741.1:n.*3473_*3476del
NM_000821.7:c.*3473_*3476del MANE Select NP_000812.2:n.*3473_*3476del
NM_001142269.4:c.*3473_*3476del NP_001135741.1:n.*3473_*3476del
Search 100 bp 5'
Search 100 bp 3'