Canonical Allele Identifier: CA2569965
Gene: CSTA HGNC NCBI

Linked Data

dbSNP Id: rs759408126
ExAC: 3:122044121 AAAG / A
gnomAD v2: 3-122044121-AAAG-A
gnomAD v4: 3-122325274-AAAG-A
MyVariant Identifiers: chr3:g.122044122_122044124del (hg19) chr3:g.122325275_122325277del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122325278_122325280del , CM000665.2:g.122325278_122325280del GRCh38
NC_000003.11:g.122044125_122044127del , CM000665.1:g.122044125_122044127del GRCh37
NC_000003.10:g.123526815_123526817del NCBI36
NG_027995.1:g.5115_5117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264474.4:c.-15_-13del MANE Select ENSP00000264474.3:n.-15_-13del
ENST00000264474.3:c.-15_-13del ENSP00000264474.3:n.-15_-13del
ENST00000479204.1:c.-15_-13del ENSP00000418891.1:n.-15_-13del
NM_005213.3:c.-15_-13del NP_005204.1:n.-15_-13del
NM_005213.4:c.-15_-13del MANE Select NP_005204.1:n.-15_-13del
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