Canonical Allele Identifier: CA595672943
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1451148322
gnomAD v2: 10-105793665-C-CT
gnomAD v3: 10-104033907-C-CT
gnomAD v4: 10-104033907-C-CT
MyVariant Identifiers: chr10:g.105793665_105793666insT (hg19) chr10:g.104033907_104033908insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033909dup , CM000672.2:g.104033909dup GRCh38
NC_000010.10:g.105793667dup , CM000672.1:g.105793667dup GRCh37
NC_000010.9:g.105783657dup NCBI36
NG_007069.1:g.56973dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3910+37dup ENSP00000358748.3:n.3910+37dup
ENST00000647647.1:c.186+37dup
ENST00000648076.2:c.4156+37dup MANE Select ENSP00000497653.1:n.4156+37dup
ENST00000353479.9:c.4156+37dup ENSP00000340937.5:n.4156+37dup
ENST00000369733.7:c.3910+37dup ENSP00000358748.3:n.3910+37dup
NM_000494.3:c.4156+37dup NP_000485.3:n.4156+37dup
NM_000494.4:c.4156+37dup MANE Select NP_000485.3:n.4156+37dup
Search 100 bp 5'
Search 100 bp 3'