Canonical Allele Identifier: CA908188340
Gene:

Linked Data

dbSNP Id: rs1377723275
gnomAD v3: 3-53056947-GTGTT-G
gnomAD v4: 3-53056947-GTGTT-G
MyVariant Identifiers: chr3:g.53090964_53090967del (hg19) chr3:g.53056948_53056951del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056954_53056957del , CM000665.2:g.53056954_53056957del GRCh38
NC_000003.11:g.53090970_53090973del , CM000665.1:g.53090970_53090973del GRCh37
NC_000003.10:g.53066010_53066013del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9712_318-9709del
ENST00000607283.5:c.465-13697_465-13694del
ENST00000607495.5:c.447+20737_447+20740del
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