Canonical Allele Identifier: CA548893888

Gene: FGF12

Linked Data

• dbSNP Id: rs1357277015
• gnomAD v2: 3-192053226-A-AG
• gnomAD v4: 3-192335437-A-AG
• MyVariant Identifiers: chr3:g.192053226_192053227insG (hg19) ; chr3:g.192335437_192335438insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.192335439dup , CM000665.2:g.192335439dup	GRCh38
NC_000003.11:g.192053228dup , CM000665.1:g.192053228dup	GRCh37
NC_000003.10:g.193535922dup	NCBI36
NG_051966.1:g.397162dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000454309.7:c.337dup	ENSP00000413496.2:p.Leu113ProfsTer12
ENST00000682819.2:n.404dup
ENST00000683451.2:c.151dup	ENSP00000508366.1:p.Leu51ProfsTer12
ENST00000682572.1:n.339dup
ENST00000682819.1:n.370dup
ENST00000683451.1:c.151dup	ENSP00000508366.1:p.Leu51ProfsTer12
ENST00000683935.1:c.151dup	ENSP00000507098.1:p.Leu51ProfsTer12
ENST00000684282.1:c.79dup	ENSP00000507149.1:p.Leu27ProfsTer12
ENST00000684728.1:c.79dup	ENSP00000506839.1:p.Leu27ProfsTer12
ENST00000445105.7:c.151dup MANE Select	ENSP00000393686.1:p.Leu51ProfsTer12
ENST00000418610.1:c.151dup	ENSP00000395517.1:p.Leu51ProfsTer12
ENST00000430714.5:c.40dup	ENSP00000410125.1:p.Leu14ProfsTer12
ENST00000445105.6:c.151dup	ENSP00000393686.1:p.Leu51ProfsTer12
ENST00000448795.5:c.79dup	ENSP00000412904.1:p.Leu27ProfsTer12
ENST00000450716.5:c.151dup	ENSP00000397635.1:p.Leu51ProfsTer12
ENST00000454309.6:c.337dup	ENSP00000413496.2:p.Leu113ProfsTer12
NM_004113.5:c.151dup	NP_004104.3:p.Leu51ProfsTer12
NM_021032.4:c.337dup	NP_066360.1:p.Leu113ProfsTer12
XM_005247227.1:c.229dup	XP_005247284.1:p.Leu77ProfsTer12
XM_006713538.2:c.142dup	XP_006713601.1:p.Leu48ProfsTer12
XM_006713539.2:c.79dup	XP_006713602.1:p.Leu27ProfsTer12
XM_005247227.2:c.229dup	XP_005247284.1:p.Leu77ProfsTer12
XM_006713538.3:c.142dup	XP_006713601.1:p.Leu48ProfsTer12
XM_024453395.1:c.79dup	XP_024309163.1:p.Leu27ProfsTer12
NM_001377292.1:c.40dup	NP_001364221.1:p.Leu14ProfsTer12
NM_001377293.1:c.79dup	NP_001364222.1:p.Leu27ProfsTer12
NM_001377294.1:c.79dup	NP_001364223.1:p.Leu27ProfsTer12
NM_004113.6:c.151dup MANE Select	NP_004104.3:p.Leu51ProfsTer12
NM_021032.5:c.337dup	NP_066360.1:p.Leu113ProfsTer12