Canonical Allele Identifier: CA595674021
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1554847354
gnomAD v2: 10-105797981-G-GACAT
gnomAD v3: 10-104038223-G-GACAT
gnomAD v4: 10-104038223-G-GACAT
MyVariant Identifiers: chr10:g.105797985_105797997delinsTACACACATACACACAC (hg19) chr10:g.105797981_105797982insACAT (hg19) chr10:g.104038227_104038239delinsTACACACATACACACAC (hg38) chr10:g.104038223_104038224insACAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038226_104038227insTACA , CM000672.2:g.104038226_104038227insTACA GRCh38
NC_000010.10:g.105797984_105797985insTACA , CM000672.1:g.105797984_105797985insTACA GRCh37
NC_000010.9:g.105787974_105787975insTACA NCBI36
NG_007069.1:g.52657_52658insATGT

Transcript Alleles

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