Canonical Allele Identifier: CA528277341

Gene: F13B

Linked Data

• dbSNP Id: rs1424588460
• gnomAD v2: 1-197008546-AG-A
• gnomAD v4: 1-197039416-AG-A
• MyVariant Identifiers: chr1:g.197008547del (hg19) ; chr1:g.197039417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039420del , CM000663.2:g.197039420del	GRCh38
NC_000001.10:g.197008550del , CM000663.1:g.197008550del	GRCh37
NC_000001.9:g.195275173del	NCBI36
NG_012065.1:g.32851del , LRG_550:g.32851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1953-6del MANE Select	ENSP00000356382.2:n.1953-6del
ENST00000649282.1:c.708-6del	ENSP00000497116.1:n.708-6del
ENST00000367412.1:c.1953-6del	ENSP00000356382.1:n.1953-6del
NM_001994.2:c.1953-6del , LRG_550t1:c.1953-6del	NP_001985.2:n.1953-6del
XM_011509283.2:c.*882del	XP_011507585.1:n.*882del
XM_011509284.2:c.*882del	XP_011507586.1:n.*882del
XM_011509286.2:c.*882del	XP_011507588.1:n.*882del
NM_001994.3:c.1953-6del MANE Select	NP_001985.2:n.1953-6del