Canonical Allele Identifier: CA1308605
Community Standard Title: NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)
Gene: F13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197061935_197061936insGTT , CM000663.2:g.197061935_197061936insGTT GRCh38
NC_000001.10:g.197031065_197031066insGTT , CM000663.1:g.197031065_197031066insGTT GRCh37
NC_000001.9:g.195297688_195297689insGTT NCBI36
NG_012065.1:g.10332_10333insAAC , LRG_550:g.10332_10333insAAC

Transcript Alleles

HGVS Amino-acid Change
NM_001994.3:c.299_300insAAC MANE Select NP_001985.2:p.Tyr100Ter
ENST00000367412.2:c.299_300insAAC MANE Select ENSP00000356382.2:p.Tyr100Ter
NM_001994.2:c.299_300insAAC , LRG_550t1:c.299_300insAAC NP_001985.2:p.Tyr100Ter
ENST00000367412.1:c.299_300insAAC ENSP00000356382.1:p.Tyr100Ter
XM_011509283.1:c.299_300insAAC XP_011507585.1:p.Tyr100Ter
XM_011509283.2:c.299_300insAAC XP_011507585.1:p.Tyr100Ter
XM_011509284.1:c.299_300insAAC XP_011507586.1:p.Tyr100Ter
XM_011509284.2:c.299_300insAAC XP_011507586.1:p.Tyr100Ter
XM_011509285.1:c.266-63_266-62insAAC XP_011507587.1:n.266-63_266-62insAAC
XM_011509286.1:c.155_156insAAC XP_011507588.1:p.Tyr52Ter
XM_011509286.2:c.155_156insAAC XP_011507588.1:p.Tyr52Ter