Canonical Allele Identifier: CA612868400

Gene: F7

Linked Data

• dbSNP Id: rs1429184222
• gnomAD v2: 13-113773273-T-TGCGCTCAGAGCC
• gnomAD v3: 13-113118959-T-TGCGCTCAGAGCC
• gnomAD v4: 13-113118959-T-TGCGCTCAGAGCC
• MyVariant Identifiers: chr13:g.113773273_113773274insGCGCTCAGAGCC (hg19) ; chr13:g.113118959_113118960insGCGCTCAGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118960_113118971dup , CM000675.2:g.113118960_113118971dup	GRCh38
NC_000013.10:g.113773274_113773285dup , CM000675.1:g.113773274_113773285dup	GRCh37
NC_000013.9:g.112821275_112821286dup	NCBI36
NG_009258.1:g.1162_1173dup , LRG_548:g.1162_1173dup
NG_009262.1:g.18170_18181dup , LRG_554:g.18170_18181dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1287_1298dup MANE Select	ENSP00000329546.4:p.Pro433_Arg434insArgSerGluPro
ENST00000346342.7:c.1287_1298dup	ENSP00000329546.3:p.Pro433_Arg434insArgSerGluPro
ENST00000375581.3:c.1353_1364dup	ENSP00000364731.3:p.Pro455_Arg456insArgSerGluPro
ENST00000541084.5:c.1101_1112dup	ENSP00000442051.2:p.Pro371_Arg372insArgSerGluPro
NM_000131.4:c.1353_1364dup , LRG_554t1:c.1353_1364dup	NP_000122.1:p.Pro455_Arg456insArgSerGluPro
NM_001267554.1:c.1101_1112dup	NP_001254483.1:p.Pro371_Arg372insArgSerGluPro
NM_019616.3:c.1287_1298dup , LRG_554t2:c.1287_1298dup	NP_062562.1:p.Pro433_Arg434insArgSerGluPro
NR_051961.1:n.1374_1385dup
XM_006719963.2:c.1146_1157dup	XP_006720026.1:p.Pro386_Arg387insArgSerGluPro
XM_011537474.1:c.1395_1406dup	XP_011535776.1:p.Pro469_Arg470insArgSerGluPro
XM_011537475.1:c.1209_1220dup	XP_011535777.1:p.Pro407_Arg408insArgSerGluPro
XM_011537476.1:c.1047_1058dup	XP_011535778.1:p.Pro353_Arg354insArgSerGluPro
XM_011537477.1:c.1356_1367dup	XP_011535779.1:p.Pro456_Arg457insArgSerGluPro
XM_006719963.3:c.1191_1202dup	XP_006720026.2:p.Pro401_Arg402insArgSerGluPro
XM_011537474.2:c.1440_1451dup	XP_011535776.2:p.Pro484_Arg485insArgSerGluPro
XM_011537475.2:c.1254_1265dup	XP_011535777.2:p.Pro422_Arg423insArgSerGluPro
XM_011537476.2:c.1047_1058dup	XP_011535778.1:p.Pro353_Arg354insArgSerGluPro
NM_019616.4:c.1287_1298dup MANE Select	NP_062562.1:p.Pro433_Arg434insArgSerGluPro
NR_051961.2:n.1371_1382dup
NM_001267554.2:c.1101_1112dup	NP_001254483.1:p.Pro371_Arg372insArgSerGluPro