Canonical Allele Identifier: CA1607973457
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs755411955
gnomAD v4: 6-6182192-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182195del , CM000668.2:g.6182195del GRCh38
NC_000006.11:g.6182428del , CM000668.1:g.6182428del GRCh37
NC_000006.10:g.6127427del NCBI36
NG_008107.1:g.143499del , LRG_549:g.143499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306-52del MANE Select ENSP00000264870.3:n.1306-52del
ENST00000264870.7:c.1306-52del ENSP00000264870.3:n.1306-52del
NM_000129.3:c.1306-52del , LRG_549t1:c.1306-52del NP_000120.2:n.1306-52del
XM_006715010.2:c.1306-52del XP_006715073.1:n.1306-52del
XM_011514342.1:c.1468-52del XP_011512644.1:n.1468-52del
NM_000129.4:c.1306-52del MANE Select NP_000120.2:n.1306-52del