Canonical Allele Identifier: CA212431320
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1321704
ClinVar RCV Id: RCV001779796
dbSNP Id: rs112689627
gnomAD v2: 10-105831714-GCA-G
gnomAD v3: 10-104071956-GCA-G
gnomAD v4: 10-104071956-GCA-G
MyVariant Identifiers: chr10:g.105831717_105831718del (hg19) chr10:g.105831715_105831716del (hg19) chr10:g.104071959_104071960del (hg38) chr10:g.104071957_104071958del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071975_104071976del , CM000672.2:g.104071975_104071976del GRCh38
NC_000010.10:g.105831733_105831734del , CM000672.1:g.105831733_105831734del GRCh37
NC_000010.9:g.105821723_105821724del NCBI36
NG_007069.1:g.18923_18924del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+74_463+75del ENSP00000358748.3:n.463+74_463+75del
ENST00000648076.2:c.463+74_463+75del MANE Select ENSP00000497653.1:n.463+74_463+75del
ENST00000649118.1:n.578+74_578+75del
ENST00000650263.1:c.415+74_415+75del ENSP00000497850.1:n.415+74_415+75del
ENST00000353479.9:c.463+74_463+75del ENSP00000340937.5:n.463+74_463+75del
ENST00000369733.7:c.463+74_463+75del ENSP00000358748.3:n.463+74_463+75del
ENST00000393211.3:c.463+74_463+75del ENSP00000376905.3:n.463+74_463+75del
ENST00000483876.1:n.513+74_513+75del
NM_000494.3:c.463+74_463+75del NP_000485.3:n.463+74_463+75del
NM_000494.4:c.463+74_463+75del MANE Select NP_000485.3:n.463+74_463+75del
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