Canonical Allele Identifier: CA942309822

Gene:

Linked Data

• dbSNP Id: rs1866694575
• gnomAD v3: 11-112164701-GC-G
• gnomAD v4: 11-112164701-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164702del , CM000673.2:g.112164702del	GRCh38
NC_000011.9:g.112035425del , CM000673.1:g.112035425del	GRCh37
NC_000011.8:g.111540635del	NCBI36
NG_028143.1:g.4416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5717del
ENST00000531744.5:c.315-5717del	ENSP00000456957.1:n.315-5717del
ENST00000532699.1:c.315-5717del	ENSP00000456434.1:n.315-5717del