Canonical Allele Identifier: CA1608030262
Gene: F13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6318449_6318451delinsCAG , CM000668.2:g.6318449_6318451delinsCAG GRCh38
NC_000006.11:g.6318682_6318684delinsCAG , CM000668.1:g.6318682_6318684delinsCAG GRCh37
NC_000006.10:g.6263681_6263683delinsCAG NCBI36
NG_008107.1:g.7241_7243delinsCTG , LRG_549:g.7241_7243delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.130+84_130+86delinsCTG MANE Select ENSP00000264870.3:n.130+84_130+86delinsCTG
ENST00000264870.7:c.130+84_130+86delinsCTG ENSP00000264870.3:n.130+84_130+86delinsCTG
ENST00000414279.5:c.130+84_130+86delinsCTG ENSP00000413334.1:n.130+84_130+86delinsCTG
ENST00000431222.6:c.292+84_292+86delinsCTG ENSP00000416295.2:n.292+84_292+86delinsCTG
ENST00000451619.1:c.204+84_204+86delinsCTG
NM_000129.3:c.130+84_130+86delinsCTG , LRG_549t1:c.130+84_130+86delinsCTG NP_000120.2:n.130+84_130+86delinsCTG
XM_006715010.2:c.130+84_130+86delinsCTG XP_006715073.1:n.130+84_130+86delinsCTG
XM_011514342.1:c.292+84_292+86delinsCTG XP_011512644.1:n.292+84_292+86delinsCTG
NM_000129.4:c.130+84_130+86delinsCTG MANE Select NP_000120.2:n.130+84_130+86delinsCTG