Canonical Allele Identifier: CA2677189678
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145512-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145515del , CM000668.2:g.6145515del GRCh38
NC_000006.11:g.6145748del , CM000668.1:g.6145748del GRCh37
NC_000006.10:g.6090747del NCBI36
NG_008107.1:g.180179del , LRG_549:g.180179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*106del MANE Select ENSP00000264870.3:n.*106del
ENST00000264870.7:c.*106del ENSP00000264870.3:n.*106del
NM_000129.3:c.*106del , LRG_549t1:c.*106del NP_000120.2:n.*106del
XM_006715010.2:c.*106del XP_006715073.1:n.*106del
XM_011514342.1:c.*106del XP_011512644.1:n.*106del
NM_000129.4:c.*106del MANE Select NP_000120.2:n.*106del