Canonical Allele Identifier: CA826657966
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1231167875
gnomAD v3: 6-6145433-T-TG
gnomAD v4: 6-6145433-T-TG
MyVariant Identifiers: chr6:g.6145666_6145667insG (hg19) chr6:g.6145433_6145434insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145434dup , CM000668.2:g.6145434dup GRCh38
NC_000006.11:g.6145667dup , CM000668.1:g.6145667dup GRCh37
NC_000006.10:g.6090666dup NCBI36
NG_008107.1:g.180258dup , LRG_549:g.180258dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*185dup MANE Select ENSP00000264870.3:n.*185dup
ENST00000264870.7:c.*185dup ENSP00000264870.3:n.*185dup
NM_000129.3:c.*185dup , LRG_549t1:c.*185dup NP_000120.2:n.*185dup
XM_006715010.2:c.*185dup XP_006715073.1:n.*185dup
XM_011514342.1:c.*185dup XP_011512644.1:n.*185dup
NM_000129.4:c.*185dup MANE Select NP_000120.2:n.*185dup
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