Canonical Allele Identifier: CA8563260
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs753604402
ExAC: 17:39768467 G / GCA
gnomAD v2: 17-39768467-G-GCA
gnomAD v3: 17-41612215-G-GCA
gnomAD v4: 17-41612215-G-GCA
MyVariant Identifiers: chr17:g.39768467_39768468insCA (hg19) chr17:g.41612215_41612216insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612215_41612216insCA , CM000679.2:g.41612215_41612216insCA GRCh38
NC_000017.10:g.39768467_39768468insCA , CM000679.1:g.39768467_39768468insCA GRCh37
NC_000017.9:g.37021993_37021994insCA NCBI36
NG_008301.1:g.5612_5613insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.473_474insTG MANE Select ENSP00000301653.3:p.Ser159AlafsTer17
ENST00000301653.8:c.473_474insTG ENSP00000301653.3:p.Ser159AlafsTer17
ENST00000588319.1:n.550_551insTG
ENST00000593067.1:c.-242_-241insTG ENSP00000467124.1:n.-242_-241insTG
NM_005557.3:c.473_474insTG NP_005548.2:p.Ser159AlafsTer17
NM_005557.4:c.473_474insTG MANE Select NP_005548.2:p.Ser159AlafsTer17
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