Canonical Allele Identifier: CA1308169

Gene: F13B

Linked Data

• dbSNP Id: rs767730416
• ExAC: 1:197008460 GA / G
• gnomAD v2: 1-197008460-GA-G
• gnomAD v4: 1-197039330-GA-G
• MyVariant Identifiers: chr1:g.197008461del (hg19) ; chr1:g.197039331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039332del , CM000663.2:g.197039332del	GRCh38
NC_000001.10:g.197008462del , CM000663.1:g.197008462del	GRCh37
NC_000001.9:g.195275085del	NCBI36
NG_012065.1:g.32937del , LRG_550:g.32937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.*47del MANE Select	ENSP00000356382.2:n.*47del
ENST00000649282.1:c.788del	ENSP00000497116.1:n.788del
ENST00000367412.1:c.*47del	ENSP00000356382.1:n.*47del
NM_001994.2:c.*47del , LRG_550t1:c.*47del	NP_001985.2:n.*47del
XM_011509283.2:c.*968del	XP_011507585.1:n.*968del
XM_011509284.2:c.*968del	XP_011507586.1:n.*968del
XM_011509286.2:c.*968del	XP_011507588.1:n.*968del
NM_001994.3:c.*47del MANE Select	NP_001985.2:n.*47del