Canonical Allele Identifier: CA2170928

Gene: GIGYF2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232847534_232847536del , CM000664.2:g.232847534_232847536del	GRCh38
NC_000002.11:g.233712244_233712246del , CM000664.1:g.233712244_233712246del	GRCh37
NC_000002.10:g.233420488_233420490del	NCBI36
NG_011847.1:g.155230_155232del

Transcript Alleles

HGVS	Amino-acid Change
NM_001103146.3:c.3647_3649del MANE Select	NP_001096616.1:p.Gln1216del
ENST00000373563.9:c.3647_3649del MANE Select	ENSP00000362664.5:p.Gln1216del
NM_001103146.1:c.3647_3649del	NP_001096616.1:p.Gln1216del
NM_001103147.1:c.3710_3712del	NP_001096617.1:p.Gln1237del
NM_001103147.2:c.3710_3712del	NP_001096617.1:p.Gln1237del
NM_001103148.1:c.3629_3631del	NP_001096618.1:p.Gln1210del
NM_001103148.2:c.3629_3631del	NP_001096618.1:p.Gln1210del
NM_015575.3:c.3647_3649del	NP_056390.2:p.Gln1216del
NM_015575.4:c.3647_3649del	NP_056390.2:p.Gln1216del
NR_103492.1:n.3605_3607del
ENST00000373563.8:c.3647_3649del	ENSP00000362664.4:p.Gln1216del
ENST00000409196.7:c.3629_3631del	ENSP00000387070.3:p.Gln1210del
ENST00000409451.7:c.3710_3712del	ENSP00000387170.3:p.Gln1237del
ENST00000409480.5:c.3713_3715del	ENSP00000386765.1:p.Gln1238del
ENST00000409547.5:c.3647_3649del	ENSP00000386537.1:p.Gln1216del
ENST00000474312.5:n.2682_2684del
ENST00000629305.2:c.3713_3715del	ENSP00000487548.1:p.Gln1238del
ENST00000676848.1:c.2993_2995del	ENSP00000503313.1:p.Gln998del
ENST00000677450.1:c.3128_3130del	ENSP00000503420.1:p.Gln1043del
ENST00000677591.1:c.2903_2905del	ENSP00000503061.1:p.Gln968del
ENST00000678230.1:c.3140_3142del	ENSP00000504272.1:p.Gln1047del
ENST00000678339.1:c.2903_2905del	ENSP00000503437.1:p.Gln968del
ENST00000678466.1:c.2903_2905del	ENSP00000504219.1:p.Gln968del
ENST00000678885.1:c.2903_2905del	ENSP00000503563.1:p.Gln968del