Canonical Allele Identifier: CA35752100

Gene: KISS1

Linked Data

• ClinVar Variation Id: 1225438
• ClinVar RCV Id: RCV001611004
• dbSNP Id: rs35128240
• gnomAD v2: 1-204159544-C-CA
• gnomAD v3: 1-204190416-C-CA
• gnomAD v4: 1-204190416-C-CA
• COSMIC: COSN18745218
• MyVariant Identifiers: chr1:g.204159544_204159545insA (hg19) ; chr1:g.204190416_204190417insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204190416_204190417insA , CM000663.2:g.204190416_204190417insA	GRCh38
NC_000001.10:g.204159544_204159545insA , CM000663.1:g.204159544_204159545insA	GRCh37
NC_000001.9:g.202426167_202426168insA	NCBI36
NG_032151.1:g.11075_11076insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367194.5:c.*67_*68insT MANE Select	ENSP00000356162.4:n.*67_*68insT
ENST00000367194.4:c.*67_*68insT	ENSP00000356162.4:n.*67_*68insT
NM_002256.3:c.*67_*68insT	NP_002247.3:n.*67_*68insT
XM_011509525.1:c.*67_*68insT	XP_011507827.1:n.*67_*68insT
NM_002256.4:c.*67_*68insT MANE Select	NP_002247.3:n.*67_*68insT