Canonical Allele Identifier: CA2677191818
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6248278-TA-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248280del , CM000668.2:g.6248280del GRCh38
NC_000006.11:g.6248513del , CM000668.1:g.6248513del GRCh37
NC_000006.10:g.6193512del NCBI36
NG_008107.1:g.77413del , LRG_549:g.77413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.798+33del MANE Select ENSP00000264870.3:n.798+33del
ENST00000264870.7:c.798+33del ENSP00000264870.3:n.798+33del
NM_000129.3:c.798+33del , LRG_549t1:c.798+33del NP_000120.2:n.798+33del
XM_006715010.2:c.798+33del XP_006715073.1:n.798+33del
XM_011514342.1:c.960+33del XP_011512644.1:n.960+33del
NM_000129.4:c.798+33del MANE Select NP_000120.2:n.798+33del