Canonical Allele Identifier: CA1933399533

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050484_104050488delinsCCTAT , CM000672.2:g.104050484_104050488delinsCCTAT	GRCh38
NC_000010.10:g.105810242_105810246delinsCCTAT , CM000672.1:g.105810242_105810246delinsCCTAT	GRCh37
NC_000010.9:g.105800232_105800236delinsCCTAT	NCBI36
NG_007069.1:g.40393_40397delinsATAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2128+133_2128+137delinsATAGG	ENSP00000358748.3:n.2128+133_2128+137delinsATAGG
ENST00000648076.2:c.2128+133_2128+137delinsATAGG MANE Select	ENSP00000497653.1:n.2128+133_2128+137delinsATAGG
ENST00000353479.9:c.2128+133_2128+137delinsATAGG	ENSP00000340937.5:n.2128+133_2128+137delinsATAGG
ENST00000369733.7:c.2128+133_2128+137delinsATAGG	ENSP00000358748.3:n.2128+133_2128+137delinsATAGG
NM_000494.3:c.2128+133_2128+137delinsATAGG	NP_000485.3:n.2128+133_2128+137delinsATAGG
NM_000494.4:c.2128+133_2128+137delinsATAGG MANE Select	NP_000485.3:n.2128+133_2128+137delinsATAGG