Canonical Allele Identifier: CA528193607
Gene: KISS1 HGNC NCBI

Linked Data

dbSNP Id: rs1166175915
gnomAD v2: 1-204159886-TC-T
gnomAD v3: 1-204190758-TC-T
gnomAD v4: 1-204190758-TC-T
MyVariant Identifiers: chr1:g.204159887del (hg19) chr1:g.204190759del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190762del , CM000663.2:g.204190762del GRCh38
NC_000001.10:g.204159890del , CM000663.1:g.204159890del GRCh37
NC_000001.9:g.202426513del NCBI36
NG_032151.1:g.10733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.142del MANE Select ENSP00000356162.4:p.Glu48SerfsTer17
ENST00000367194.4:c.142del ENSP00000356162.4:p.Glu48SerfsTer17
ENST00000625357.1:c.142del ENSP00000485957.1:p.Glu48SerfsTer17
NM_002256.3:c.142del NP_002247.3:p.Glu48SerfsTer17
XM_011509525.1:c.142del XP_011507827.1:p.Glu48SerfsTer17
NM_002256.4:c.142del MANE Select NP_002247.3:p.Glu48SerfsTer17
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