Canonical Allele Identifier: CA2677189635
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145491-GGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145493_6145494del , CM000668.2:g.6145493_6145494del GRCh38
NC_000006.11:g.6145726_6145727del , CM000668.1:g.6145726_6145727del GRCh37
NC_000006.10:g.6090725_6090726del NCBI36
NG_008107.1:g.180199_180200del , LRG_549:g.180199_180200del

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*126_*127del MANE Select ENSP00000264870.3:n.*126_*127del
ENST00000264870.7:c.*126_*127del ENSP00000264870.3:n.*126_*127del
NM_000129.3:c.*126_*127del , LRG_549t1:c.*126_*127del NP_000120.2:n.*126_*127del
XM_006715010.2:c.*126_*127del XP_006715073.1:n.*126_*127del
XM_011514342.1:c.*126_*127del XP_011512644.1:n.*126_*127del
NM_000129.4:c.*126_*127del MANE Select NP_000120.2:n.*126_*127del
Search 100 bp 5'
Search 100 bp 3'