Canonical Allele Identifier: CA2591318647

Gene: F13A1

Linked Data

• dbSNP Id: rs2151066470
• gnomAD v3: 6-6145349-GTTACTC-G
• gnomAD v4: 6-6145349-GTTACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6145353_6145358del , CM000668.2:g.6145353_6145358del	GRCh38
NC_000006.11:g.6145586_6145591del , CM000668.1:g.6145586_6145591del	GRCh37
NC_000006.10:g.6090585_6090590del	NCBI36
NG_008107.1:g.180337_180342del , LRG_549:g.180337_180342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.*264_*269del MANE Select	ENSP00000264870.3:n.*264_*269del
ENST00000264870.7:c.*264_*269del	ENSP00000264870.3:n.*264_*269del
NM_000129.3:c.*264_*269del , LRG_549t1:c.*264_*269del	NP_000120.2:n.*264_*269del
XM_006715010.2:c.*264_*269del	XP_006715073.1:n.*264_*269del
XM_011514342.1:c.*264_*269del	XP_011512644.1:n.*264_*269del
NM_000129.4:c.*264_*269del MANE Select	NP_000120.2:n.*264_*269del