Canonical Allele Identifier: CA5677696
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs759186888
ExAC: 10:105793667 T / TC
gnomAD v2: 10-105793667-T-TC
gnomAD v4: 10-104033909-T-TC
MyVariant Identifiers: chr10:g.105793668_105793669insC (hg19) chr10:g.105793667_105793668insC (hg19) chr10:g.104033909_104033910insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033915dup , CM000672.2:g.104033915dup GRCh38
NC_000010.10:g.105793673dup , CM000672.1:g.105793673dup GRCh37
NC_000010.9:g.105783663dup NCBI36
NG_007069.1:g.56971dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3910+35dup ENSP00000358748.3:n.3910+35dup
ENST00000647647.1:c.186+35dup
ENST00000648076.2:c.4156+35dup MANE Select ENSP00000497653.1:n.4156+35dup
ENST00000353479.9:c.4156+35dup ENSP00000340937.5:n.4156+35dup
ENST00000369733.7:c.3910+35dup ENSP00000358748.3:n.3910+35dup
NM_000494.3:c.4156+35dup NP_000485.3:n.4156+35dup
NM_000494.4:c.4156+35dup MANE Select NP_000485.3:n.4156+35dup
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