Canonical Allele Identifier: CA2610801492
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104071956-G-GCACACACA
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071969_104071976dup , CM000672.2:g.104071969_104071976dup GRCh38
NC_000010.10:g.105831727_105831734dup , CM000672.1:g.105831727_105831734dup GRCh37
NC_000010.9:g.105821717_105821724dup NCBI36
NG_007069.1:g.18917_18924dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+68_463+75dup ENSP00000358748.3:n.463+68_463+75dup
ENST00000648076.2:c.463+68_463+75dup MANE Select ENSP00000497653.1:n.463+68_463+75dup
ENST00000649118.1:n.578+68_578+75dup
ENST00000650263.1:c.415+68_415+75dup ENSP00000497850.1:n.415+68_415+75dup
ENST00000353479.9:c.463+68_463+75dup ENSP00000340937.5:n.463+68_463+75dup
ENST00000369733.7:c.463+68_463+75dup ENSP00000358748.3:n.463+68_463+75dup
ENST00000393211.3:c.463+68_463+75dup ENSP00000376905.3:n.463+68_463+75dup
ENST00000483876.1:n.513+68_513+75dup
NM_000494.3:c.463+68_463+75dup NP_000485.3:n.463+68_463+75dup
NM_000494.4:c.463+68_463+75dup MANE Select NP_000485.3:n.463+68_463+75dup
Search 100 bp 5'
Search 100 bp 3'