Canonical Allele Identifier: CA212431331

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 1281749
• ClinVar RCV Id: RCV001693733
• dbSNP Id: rs112689627
• gnomAD v2: 10-105831714-G-GCA
• gnomAD v3: 10-104071956-G-GCA
• gnomAD v4: 10-104071956-G-GCA
• MyVariant Identifiers: chr10:g.105831718_105831719insCA (hg19) ; chr10:g.105831716_105831717insCA (hg19) ; chr10:g.105831714_105831715insCA (hg19) ; chr10:g.104071960_104071961insCA (hg38) ; chr10:g.104071956_104071957insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104071975_104071976dup , CM000672.2:g.104071975_104071976dup	GRCh38
NC_000010.10:g.105831733_105831734dup , CM000672.1:g.105831733_105831734dup	GRCh37
NC_000010.9:g.105821723_105821724dup	NCBI36
NG_007069.1:g.18923_18924dup

Transcript Alleles

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