Canonical Allele Identifier: CA826658028
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1437569459
gnomAD v4: 6-6145523-AC-A
MyVariant Identifiers: chr6:g.6145757del (hg19) chr6:g.6145524del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145525del , CM000668.2:g.6145525del GRCh38
NC_000006.11:g.6145758del , CM000668.1:g.6145758del GRCh37
NC_000006.10:g.6090757del NCBI36
NG_008107.1:g.180168del , LRG_549:g.180168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*95del MANE Select ENSP00000264870.3:n.*95del
ENST00000264870.7:c.*95del ENSP00000264870.3:n.*95del
NM_000129.3:c.*95del , LRG_549t1:c.*95del NP_000120.2:n.*95del
XM_006715010.2:c.*95del XP_006715073.1:n.*95del
XM_011514342.1:c.*95del XP_011512644.1:n.*95del
NM_000129.4:c.*95del MANE Select NP_000120.2:n.*95del
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