Canonical Allele Identifier: CA8563357
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs770208309
ExAC: 17:39768847 AGATGCGGCTGGAGCCGCCCCC / A
gnomAD v2: 17-39768847-AGATGCGGCTGGAGCCGCCCCC-A
gnomAD v3: 17-41612595-AGATGCGGCTGGAGCCGCCCCC-A
gnomAD v4: 17-41612595-AGATGCGGCTGGAGCCGCCCCC-A
MyVariant Identifiers: chr17:g.39768848_39768868del (hg19) chr17:g.41612596_41612616del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612601_41612621del , CM000679.2:g.41612601_41612621del GRCh38
NC_000017.10:g.39768853_39768873del , CM000679.1:g.39768853_39768873del GRCh37
NC_000017.9:g.37022379_37022399del NCBI36
NG_008301.1:g.5212_5232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.73_93del MANE Select ENSP00000301653.3:p.Gly25_Ile31del
ENST00000301653.8:c.73_93del ENSP00000301653.3:p.Gly25_Ile31del
ENST00000588319.1:n.150_170del
ENST00000590990.1:c.73_93del ENSP00000467105.1:p.Gly25_Ile31del
ENST00000593067.1:c.-313+174_-313+194del ENSP00000467124.1:n.-313+174_-313+194del
NM_005557.3:c.73_93del NP_005548.2:p.Gly25_Ile31del
NM_005557.4:c.73_93del MANE Select NP_005548.2:p.Gly25_Ile31del
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