Canonical Allele Identifier: CA1345186

Gene: KISS1

Linked Data

• dbSNP Id: rs759284873
• ExAC: 1:204159890 CGG / C
• gnomAD v2: 1-204159890-CGG-C
• gnomAD v3: 1-204190762-CGG-C
• gnomAD v4: 1-204190762-CGG-C
• MyVariant Identifiers: chr1:g.204159891_204159892del (hg19) ; chr1:g.204190763_204190764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204190766_204190767del , CM000663.2:g.204190766_204190767del	GRCh38
NC_000001.10:g.204159894_204159895del , CM000663.1:g.204159894_204159895del	GRCh37
NC_000001.9:g.202426517_202426518del	NCBI36
NG_032151.1:g.10728_10729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367194.5:c.137_138del MANE Select	ENSP00000356162.4:p.Pro46ArgfsTer?
ENST00000367194.4:c.137_138del	ENSP00000356162.4:p.Pro46ArgfsTer?
ENST00000625357.1:c.137_138del	ENSP00000485957.1:p.Pro46ArgfsTer?
NM_002256.3:c.137_138del	NP_002247.3:p.Pro46ArgfsTer?
XM_011509525.1:c.137_138del	XP_011507827.1:p.Pro46ArgfsTer?
NM_002256.4:c.137_138del MANE Select	NP_002247.3:p.Pro46ArgfsTer?