Canonical Allele Identifier: CA133909103
Community Standard Title: NM_000129.4(F13A1):c.1908+130_1908+132del
Gene: F13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6167344_6167346del , CM000668.2:g.6167344_6167346del GRCh38
NC_000006.11:g.6167577_6167579del , CM000668.1:g.6167577_6167579del GRCh37
NC_000006.10:g.6112576_6112578del NCBI36
NG_008107.1:g.158364_158366del , LRG_549:g.158364_158366del

Transcript Alleles

HGVS Amino-acid Change
NM_000129.4:c.1908+130_1908+132del MANE Select NP_000120.2:n.1908+130_1908+132del
ENST00000264870.8:c.1908+130_1908+132del MANE Select ENSP00000264870.3:n.1908+130_1908+132del
NM_000129.3:c.1908+130_1908+132del , LRG_549t1:c.1908+130_1908+132del NP_000120.2:n.1908+130_1908+132del
ENST00000264870.7:c.1908+130_1908+132del ENSP00000264870.3:n.1908+130_1908+132del
XM_006715010.2:c.1908+130_1908+132del XP_006715073.1:n.1908+130_1908+132del
XM_011514342.1:c.2070+130_2070+132del XP_011512644.1:n.2070+130_2070+132del