Canonical Allele Identifier: CA1062621981
Gene:

Linked Data

dbSNP Id: rs1717635295
gnomAD v3: 4-54072450-CA-C
gnomAD v4: 4-54072450-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072454del , CM000666.2:g.54072454del GRCh38
NC_000004.11:g.54938621del , CM000666.1:g.54938621del GRCh37
NC_000004.10:g.54633378del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202471del ENSP00000423325.1:n.1018-202471del
Search 100 bp 5'
Search 100 bp 3'