Canonical Allele Identifier: CA2677189640
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145492-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145493del , CM000668.2:g.6145493del GRCh38
NC_000006.11:g.6145726del , CM000668.1:g.6145726del GRCh37
NC_000006.10:g.6090725del NCBI36
NG_008107.1:g.180199del , LRG_549:g.180199del

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*126del MANE Select ENSP00000264870.3:n.*126del
ENST00000264870.7:c.*126del ENSP00000264870.3:n.*126del
NM_000129.3:c.*126del , LRG_549t1:c.*126del NP_000120.2:n.*126del
XM_006715010.2:c.*126del XP_006715073.1:n.*126del
XM_011514342.1:c.*126del XP_011512644.1:n.*126del
NM_000129.4:c.*126del MANE Select NP_000120.2:n.*126del
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