Canonical Allele Identifier: CA2170924
Community Standard Title: NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del)
Gene: GIGYF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232847517_232847519del , CM000664.2:g.232847517_232847519del GRCh38
NC_000002.11:g.233712227_233712229del , CM000664.1:g.233712227_233712229del GRCh37
NC_000002.10:g.233420471_233420473del NCBI36
NG_011847.1:g.155213_155215del

Transcript Alleles

HGVS Amino-acid Change
NM_001103146.3:c.3630_3632del MANE Select NP_001096616.1:p.Gln1211del
ENST00000373563.9:c.3630_3632del MANE Select ENSP00000362664.5:p.Gln1211del
NM_001103146.1:c.3630_3632del NP_001096616.1:p.Gln1211del
NM_001103147.1:c.3693_3695del NP_001096617.1:p.Gln1232del
NM_001103147.2:c.3693_3695del NP_001096617.1:p.Gln1232del
NM_001103148.1:c.3612_3614del NP_001096618.1:p.Gln1205del
NM_001103148.2:c.3612_3614del NP_001096618.1:p.Gln1205del
NM_015575.3:c.3630_3632del NP_056390.2:p.Gln1211del
NM_015575.4:c.3630_3632del NP_056390.2:p.Gln1211del
NR_103492.1:n.3588_3590del
ENST00000373563.8:c.3630_3632del ENSP00000362664.4:p.Gln1211del
ENST00000409196.7:c.3612_3614del ENSP00000387070.3:p.Gln1205del
ENST00000409451.7:c.3693_3695del ENSP00000387170.3:p.Gln1232del
ENST00000409480.5:c.3696_3698del ENSP00000386765.1:p.Gln1233del
ENST00000409547.5:c.3630_3632del ENSP00000386537.1:p.Gln1211del
ENST00000474312.5:n.2665_2667del
ENST00000629305.2:c.3696_3698del ENSP00000487548.1:p.Gln1233del
ENST00000676848.1:c.2976_2978del ENSP00000503313.1:p.Gln993del
ENST00000677450.1:c.3111_3113del ENSP00000503420.1:p.Gln1038del
ENST00000677591.1:c.2886_2888del ENSP00000503061.1:p.Gln963del
ENST00000678230.1:c.3123_3125del ENSP00000504272.1:p.Gln1042del
ENST00000678339.1:c.2886_2888del ENSP00000503437.1:p.Gln963del
ENST00000678466.1:c.2886_2888del ENSP00000504219.1:p.Gln963del
ENST00000678885.1:c.2886_2888del ENSP00000503563.1:p.Gln963del