Canonical Allele Identifier: CA626215499
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1567745564
gnomAD v2: 17-39768635-AAAGCCAGCACCCAAGCCACCACCG-A
gnomAD v3: 17-41612383-AAAGCCAGCACCCAAGCCACCACCG-A
gnomAD v4: 17-41612383-AAAGCCAGCACCCAAGCCACCACCG-A
MyVariant Identifiers: chr17:g.39768636_39768659del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612395_41612418del , CM000679.2:g.41612395_41612418del GRCh38
NC_000017.10:g.39768647_39768670del , CM000679.1:g.39768647_39768670del GRCh37
NC_000017.9:g.37022173_37022196del NCBI36
NG_008301.1:g.5421_5444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.282_305del MANE Select ENSP00000301653.3:p.Gly95_Phe102del
ENST00000301653.8:c.282_305del ENSP00000301653.3:p.Gly95_Phe102del
ENST00000588319.1:n.359_382del
ENST00000593067.1:c.-312-121_-312-98del ENSP00000467124.1:n.-312-121_-312-98del
NM_005557.3:c.282_305del NP_005548.2:p.Gly95_Phe102del
NM_005557.4:c.282_305del MANE Select NP_005548.2:p.Gly95_Phe102del
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