Canonical Allele Identifier: CA601753826

Gene:

Linked Data

• dbSNP Id: rs1346243802
• gnomAD v2: 11-112035603-TTTGAAATA-T
• gnomAD v3: 11-112164880-TTTGAAATA-T
• gnomAD v4: 11-112164880-TTTGAAATA-T
• MyVariant Identifiers: chr11:g.112035604_112035611del (hg19) ; chr11:g.112164881_112164888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164881_112164888del , CM000673.2:g.112164881_112164888del	GRCh38
NC_000011.9:g.112035604_112035611del , CM000673.1:g.112035604_112035611del	GRCh37
NC_000011.8:g.111540814_111540821del	NCBI36
NG_028143.1:g.4230_4237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5538_320-5531del
ENST00000531744.5:c.315-5538_315-5531del	ENSP00000456957.1:n.315-5538_315-5531del
ENST00000532699.1:c.315-5538_315-5531del	ENSP00000456434.1:n.315-5538_315-5531del