Canonical Allele Identifier: CA572977460
Gene:

Linked Data

dbSNP Id: rs1273355242
gnomAD v2: 7-13553767-AC-A
gnomAD v3: 7-13514142-AC-A
gnomAD v4: 7-13514142-AC-A
MyVariant Identifiers: chr7:g.13553768del (hg19) chr7:g.13514143del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514144del , CM000669.2:g.13514144del GRCh38
NC_000007.13:g.13553769del , CM000669.1:g.13553769del GRCh37
NC_000007.12:g.13520294del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-188172del
Search 100 bp 5'
Search 100 bp 3'