Canonical Allele Identifier: CA86544267

Gene: SI

Linked Data

• dbSNP Id: rs886727421
• MyVariant Identifiers: chr3:g.164764667_164764682del (hg19) ; chr3:g.165046879_165046894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046881_165046896del , CM000665.2:g.165046881_165046896del	GRCh38
NC_000003.11:g.164764669_164764684del , CM000665.1:g.164764669_164764684del	GRCh37
NC_000003.10:g.166247363_166247378del	NCBI36
NG_017043.1:g.36602_36617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1834_1849del MANE Select	ENSP00000264382.3:p.Met612LeufsTer?
ENST00000264382.7:c.1834_1849del	ENSP00000264382.3:p.Met612LeufsTer?
NM_001041.3:c.1834_1849del	NP_001032.2:p.Met612LeufsTer?
XM_011513078.1:c.1735_1750del	XP_011511380.1:p.Met579LeufsTer?
XM_011513078.2:c.1735_1750del	XP_011511380.1:p.Met579LeufsTer?
NM_001041.4:c.1834_1849del MANE Select	NP_001032.2:p.Met612LeufsTer?