Canonical Allele Identifier: CA1308646
Gene: F13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197062965dup , CM000663.2:g.197062965dup GRCh38
NC_000001.10:g.197032095dup , CM000663.1:g.197032095dup GRCh37
NC_000001.9:g.195298718dup NCBI36
NG_012065.1:g.9308dup , LRG_550:g.9308dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.162dup MANE Select ENSP00000356382.2:p.Leu55IlefsTer12
ENST00000367412.1:c.162dup ENSP00000356382.1:p.Leu55IlefsTer12
NM_001994.2:c.162dup , LRG_550t1:c.162dup NP_001985.2:p.Leu55IlefsTer12
XM_011509283.1:c.162dup XP_011507585.1:p.Leu55IlefsTer12
XM_011509284.1:c.162dup XP_011507586.1:p.Leu55IlefsTer12
XM_011509285.1:c.162dup XP_011507587.1:p.Leu55IlefsTer12
XM_011509286.1:c.18dup XP_011507588.1:p.Leu7IlefsTer12
XM_011509283.2:c.162dup XP_011507585.1:p.Leu55IlefsTer12
XM_011509284.2:c.162dup XP_011507586.1:p.Leu55IlefsTer12
XM_011509286.2:c.18dup XP_011507588.1:p.Leu7IlefsTer12
NM_001994.3:c.162dup MANE Select NP_001985.2:p.Leu55IlefsTer12