Canonical Allele Identifier: CA1217904221

Gene: F13B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039405_197039407delinsCAG , CM000663.2:g.197039405_197039407delinsCAG	GRCh38
NC_000001.10:g.197008535_197008537delinsCAG , CM000663.1:g.197008535_197008537delinsCAG	GRCh37
NC_000001.9:g.195275158_195275160delinsCAG	NCBI36
NG_012065.1:g.32861_32863delinsCTG , LRG_550:g.32861_32863delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1957_1959delinsCTG MANE Select	ENSP00000356382.2:p.Leu653=
ENST00000649282.1:c.712_714delinsCTG	ENSP00000497116.1:p.Leu238=
ENST00000367412.1:c.1957_1959delinsCTG	ENSP00000356382.1:p.Leu653=
NM_001994.2:c.1957_1959delinsCTG , LRG_550t1:c.1957_1959delinsCTG	NP_001985.2:p.Leu653=
XM_011509283.2:c.*892_*894delinsCTG	XP_011507585.1:n.*892_*894delinsCTG
XM_011509284.2:c.*892_*894delinsCTG	XP_011507586.1:n.*892_*894delinsCTG
XM_011509286.2:c.*892_*894delinsCTG	XP_011507588.1:n.*892_*894delinsCTG
NM_001994.3:c.1957_1959delinsCTG MANE Select	NP_001985.2:p.Leu653=