Canonical Allele Identifier: CA528277340

Gene: F13B

Linked Data

• dbSNP Id: rs1258700251
• gnomAD v2: 1-197008535-CAG-C
• gnomAD v4: 1-197039405-CAG-C
• MyVariant Identifiers: chr1:g.197008536_197008537del (hg19) ; chr1:g.197039406_197039407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039408_197039409del , CM000663.2:g.197039408_197039409del	GRCh38
NC_000001.10:g.197008538_197008539del , CM000663.1:g.197008538_197008539del	GRCh37
NC_000001.9:g.195275161_195275162del	NCBI36
NG_012065.1:g.32861_32862del , LRG_550:g.32861_32862del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1957_1958del MANE Select	ENSP00000356382.2:p.Leu653ValfsTer30
ENST00000649282.1:c.712_713del	ENSP00000497116.1:p.Leu238ValfsTer30
ENST00000367412.1:c.1957_1958del	ENSP00000356382.1:p.Leu653ValfsTer30
NM_001994.2:c.1957_1958del , LRG_550t1:c.1957_1958del	NP_001985.2:p.Leu653ValfsTer30
XM_011509283.2:c.*892_*893del	XP_011507585.1:n.*892_*893del
XM_011509284.2:c.*892_*893del	XP_011507586.1:n.*892_*893del
XM_011509286.2:c.*892_*893del	XP_011507588.1:n.*892_*893del
NM_001994.3:c.1957_1958del MANE Select	NP_001985.2:p.Leu653ValfsTer30