Canonical Allele Identifier: CA528277339

Gene: F13B

Linked Data

• dbSNP Id: rs1365064564
• gnomAD v2: 1-197008535-C-CA
• gnomAD v3: 1-197039405-C-CA
• gnomAD v4: 1-197039405-C-CA
• MyVariant Identifiers: chr1:g.197008535_197008536insA (hg19) ; chr1:g.197039405_197039406insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039406dup , CM000663.2:g.197039406dup	GRCh38
NC_000001.10:g.197008536dup , CM000663.1:g.197008536dup	GRCh37
NC_000001.9:g.195275159dup	NCBI36
NG_012065.1:g.32862dup , LRG_550:g.32862dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1958dup MANE Select	ENSP00000356382.2:p.Ser654ValfsTer30
ENST00000649282.1:c.713dup	ENSP00000497116.1:p.Ser239ValfsTer30
ENST00000367412.1:c.1958dup	ENSP00000356382.1:p.Ser654ValfsTer30
NM_001994.2:c.1958dup , LRG_550t1:c.1958dup	NP_001985.2:p.Ser654ValfsTer30
XM_011509283.2:c.*893dup	XP_011507585.1:n.*893dup
XM_011509284.2:c.*893dup	XP_011507586.1:n.*893dup
XM_011509286.2:c.*893dup	XP_011507588.1:n.*893dup
NM_001994.3:c.1958dup MANE Select	NP_001985.2:p.Ser654ValfsTer30