Canonical Allele Identifier: CA555019257

Gene: FAT4

Linked Data

• dbSNP Id: rs1560752588
• gnomAD v2: 4-126238510-C-CCCCTGGACT
• gnomAD v3: 4-125317355-C-CCCCTGGACT
• gnomAD v4: 4-125317355-C-CCCCTGGACT
• MyVariant Identifiers: chr4:g.126238510_126238511insCCCTGGACT (hg19) ; chr4:g.125317355_125317356insCCCTGGACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317355_125317356insCCCTGGACT , CM000666.2:g.125317355_125317356insCCCTGGACT	GRCh38
NC_000004.11:g.126238510_126238511insCCCTGGACT , CM000666.1:g.126238510_126238511insCCCTGGACT	GRCh37
NC_000004.10:g.126457960_126457961insCCCTGGACT	NCBI36
NG_033865.1:g.5944_5945insCCCTGGACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.944_945insCCCTGGACT MANE Select	ENSP00000377862.4:p.Ala315_Arg316insProGlyLeu
ENST00000674496.2:c.-55+1378_-55+1379insCCCTGGACT	ENSP00000501473.2:n.-55+1378_-55+1379insCCCTGGACT
ENST00000394329.7:c.944_945insCCCTGGACT	ENSP00000377862.3:p.Ala315_Arg316insProGlyLeu
NM_001291285.1:c.944_945insCCCTGGACT	NP_001278214.1:p.Ala315_Arg316insProGlyLeu
NM_001291303.1:c.944_945insCCCTGGACT	NP_001278232.1:p.Ala315_Arg316insProGlyLeu
NM_024582.4:c.944_945insCCCTGGACT	NP_078858.4:p.Ala315_Arg316insProGlyLeu
XM_011532236.1:c.944_945insCCCTGGACT	XP_011530538.1:p.Ala315_Arg316insProGlyLeu
XM_011532237.1:c.-55+1378_-55+1379insCCCTGGACT	XP_011530539.1:n.-55+1378_-55+1379insCCCTGGACT
XM_011532236.2:c.944_945insCCCTGGACT	XP_011530538.1:p.Ala315_Arg316insProGlyLeu
XM_011532237.2:c.-55+1378_-55+1379insCCCTGGACT	XP_011530539.1:n.-55+1378_-55+1379insCCCTGGACT
NM_001291285.2:c.944_945insCCCTGGACT	NP_001278214.1:p.Ala315_Arg316insProGlyLeu
NM_001291303.3:c.944_945insCCCTGGACT MANE Select	NP_001278232.1:p.Ala315_Arg316insProGlyLeu
NM_024582.5:c.944_945insCCCTGGACT	NP_078858.4:p.Ala315_Arg316insProGlyLeu
NM_001291285.3:c.944_945insCCCTGGACT	NP_001278214.1:p.Ala315_Arg316insProGlyLeu
NM_024582.6:c.944_945insCCCTGGACT	NP_078858.4:p.Ala315_Arg316insProGlyLeu