Canonical Allele Identifier: CA603489229

Gene: NANOG

Linked Data

• dbSNP Id: rs1194261907
• gnomAD v2: 12-7945641-AGTGTCGC-A
• gnomAD v3: 12-7793045-AGTGTCGC-A
• gnomAD v4: 12-7793045-AGTGTCGC-A
• MyVariant Identifiers: chr12:g.7945642_7945648del (hg19) ; chr12:g.7793046_7793052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7793046_7793052del , CM000674.2:g.7793046_7793052del	GRCh38
NC_000012.11:g.7945642_7945648del , CM000674.1:g.7945642_7945648del	GRCh37
NC_000012.10:g.7836909_7836915del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229307.9:c.248_254del MANE Select	ENSP00000229307.4:p.Ser83LysfsTer?
ENST00000229307.8:c.248_254del	ENSP00000229307.4:p.Ser83LysfsTer?
ENST00000526286.1:c.248_254del	ENSP00000435288.1:p.Ser83LysfsTer?
ENST00000526434.2:n.392_398del
ENST00000541267.5:c.176_182del	ENSP00000444434.1:p.Ser59LysfsTer?
NM_001297698.1:c.248_254del	NP_001284627.1:p.Ser83LysfsTer?
NM_024865.3:c.248_254del	NP_079141.2:p.Ser83LysfsTer?
XM_011520850.1:c.248_254del	XP_011519152.1:p.Ser83LysfsTer?
XM_011520851.1:c.176_182del	XP_011519153.1:p.Ser59LysfsTer?
XM_011520852.1:c.-125_-119del	XP_011519154.1:n.-125_-119del
NM_024865.4:c.248_254del MANE Select	NP_079141.2:p.Ser83LysfsTer?
NM_001297698.2:c.248_254del	NP_001284627.1:p.Ser83LysfsTer?