Canonical Allele Identifier: CA595674024
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1170048144
gnomAD v2: 10-105797981-GACAC-G
gnomAD v3: 10-104038223-GACAC-G
gnomAD v4: 10-104038223-GACAC-G
MyVariant Identifiers: chr10:g.105797982_105797985del (hg19) chr10:g.105797985_105797997delinsTACACACAC (hg19) chr10:g.104038224_104038227del (hg38) chr10:g.104038227_104038239delinsTACACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038227_104038230del , CM000672.2:g.104038227_104038230del GRCh38
NC_000010.10:g.105797985_105797988del , CM000672.1:g.105797985_105797988del GRCh37
NC_000010.9:g.105787975_105787978del NCBI36
NG_007069.1:g.52654_52657del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2935+179_2935+182del ENSP00000358748.3:n.2935+179_2935+182del
ENST00000648076.2:c.3070+179_3070+182del MANE Select ENSP00000497653.1:n.3070+179_3070+182del
ENST00000353479.9:c.3070+179_3070+182del ENSP00000340937.5:n.3070+179_3070+182del
ENST00000369733.7:c.2935+179_2935+182del ENSP00000358748.3:n.2935+179_2935+182del
NM_000494.3:c.3070+179_3070+182del NP_000485.3:n.3070+179_3070+182del
NM_000494.4:c.3070+179_3070+182del MANE Select NP_000485.3:n.3070+179_3070+182del
Search 100 bp 5'
Search 100 bp 3'