Canonical Allele Identifier: CA671767151

Gene:

Linked Data

• dbSNP Id: rs1239166154
• gnomAD v3: 11-112166674-TGCAGGTCAAAGCCTCC-T
• gnomAD v4: 11-112166674-TGCAGGTCAAAGCCTCC-T
• MyVariant Identifiers: chr11:g.112037398_112037413del (hg19) ; chr11:g.112166675_112166690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166678_112166693del , CM000673.2:g.112166678_112166693del	GRCh38
NC_000011.9:g.112037401_112037416del , CM000673.1:g.112037401_112037416del	GRCh37
NC_000011.8:g.111542611_111542626del	NCBI36
NG_028143.1:g.2428_2443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525987.5:n.320-3741_320-3726del
ENST00000531744.5:c.315-3741_315-3726del	ENSP00000456957.1:n.315-3741_315-3726del
ENST00000532699.1:c.315-3741_315-3726del	ENSP00000456434.1:n.315-3741_315-3726del