Canonical Allele Identifier: CA1345106

Gene: KISS1

Linked Data

• ClinVar Variation Id: 1226970
• ClinVar RCV Id: RCV001608844
• dbSNP Id: rs746113335
• ExAC: 1:204159602 A / ACCTGCGCCCTCAGCCCCGCC
• gnomAD v2: 1-204159602-A-ACCTGCGCCCTCAGCCCCGCC
• gnomAD v3: 1-204190474-A-ACCTGCGCCCTCAGCCCCGCC
• gnomAD v4: 1-204190474-A-ACCTGCGCCCTCAGCCCCGCC
• COSMIC: COSM4775373
• MyVariant Identifiers: chr1:g.204159602_204159603insCCTGCGCCCTCAGCCCCGCC (hg19) ; chr1:g.204190474_204190475insCCTGCGCCCTCAGCCCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204190476_204190495dup , CM000663.2:g.204190476_204190495dup	GRCh38
NC_000001.10:g.204159604_204159623dup , CM000663.1:g.204159604_204159623dup	GRCh37
NC_000001.9:g.202426227_202426246dup	NCBI36
NG_032151.1:g.10998_11017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367194.5:c.407_*9dup MANE Select	ENSP00000356162.4:n.407_*9dup
ENST00000367194.4:c.407_*9dup	ENSP00000356162.4:n.407_*9dup
ENST00000625357.1:c.407_422dup
NM_002256.3:c.407_*9dup	NP_002247.3:n.407_*9dup
XM_011509525.1:c.407_*9dup	XP_011507827.1:n.407_*9dup
NM_002256.4:c.407_*9dup MANE Select	NP_002247.3:n.407_*9dup