Canonical Allele Identifier: CA626018621
Gene: KRT17 HGNC NCBI

Linked Data

dbSNP Id: rs1342519596
gnomAD v2: 17-39780800-TGGAGA-T
gnomAD v3: 17-41624548-TGGAGA-T
gnomAD v4: 17-41624548-TGGAGA-T
MyVariant Identifiers: chr17:g.39780801_39780805del (hg19) chr17:g.41624549_41624553del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624556_41624560del , CM000679.2:g.41624556_41624560del GRCh38
NC_000017.10:g.39780808_39780812del , CM000679.1:g.39780808_39780812del GRCh37
NC_000017.9:g.37034334_37034338del NCBI36
NG_008625.1:g.5078_5082del
NG_009090.2:g.167160_167164del , LRG_401:g.167160_167164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.-44_-40del MANE Select ENSP00000308452.8:n.-44_-40del
ENST00000311208.12:c.-44_-40del ENSP00000308452.8:n.-44_-40del
ENST00000463128.5:c.-313+190_-313+194del ENSP00000468672.1:n.-313+190_-313+194del
ENST00000491673.1:n.23_27del
NM_000422.2:c.-44_-40del NP_000413.1:n.-44_-40del
NM_000422.3:c.-44_-40del MANE Select NP_000413.1:n.-44_-40del
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