Canonical Allele Identifier: CA932070169
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1170048144
gnomAD v3: 10-104038223-G-GACACACACAC
gnomAD v4: 10-104038223-G-GACACACACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038230_104038231insCACACACACA , CM000672.2:g.104038230_104038231insCACACACACA GRCh38
NC_000010.10:g.105797988_105797989insCACACACACA , CM000672.1:g.105797988_105797989insCACACACACA GRCh37
NC_000010.9:g.105787978_105787979insCACACACACA NCBI36
NG_007069.1:g.52657_52658insGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+182_2935+183insGTGTGTGTGT ENSP00000358748.3:n.2935+182_2935+183insGTGTGTGTGT
ENST00000648076.2:c.3070+182_3070+183insGTGTGTGTGT MANE Select ENSP00000497653.1:n.3070+182_3070+183insGTGTGTGTGT
ENST00000353479.9:c.3070+182_3070+183insGTGTGTGTGT ENSP00000340937.5:n.3070+182_3070+183insGTGTGTGTGT
ENST00000369733.7:c.2935+182_2935+183insGTGTGTGTGT ENSP00000358748.3:n.2935+182_2935+183insGTGTGTGTGT
NM_000494.3:c.3070+182_3070+183insGTGTGTGTGT NP_000485.3:n.3070+182_3070+183insGTGTGTGTGT
NM_000494.4:c.3070+182_3070+183insGTGTGTGTGT MANE Select NP_000485.3:n.3070+182_3070+183insGTGTGTGTGT
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