Canonical Allele Identifier: CA1933399512

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050461_104050462delinsTC , CM000672.2:g.104050461_104050462delinsTC	GRCh38
NC_000010.10:g.105810219_105810220delinsTC , CM000672.1:g.105810219_105810220delinsTC	GRCh37
NC_000010.9:g.105800209_105800210delinsTC	NCBI36
NG_007069.1:g.40419_40420delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2128+159_2128+160delinsGA	ENSP00000358748.3:n.2128+159_2128+160delinsGA
ENST00000648076.2:c.2128+159_2128+160delinsGA MANE Select	ENSP00000497653.1:n.2128+159_2128+160delinsGA
ENST00000353479.9:c.2128+159_2128+160delinsGA	ENSP00000340937.5:n.2128+159_2128+160delinsGA
ENST00000369733.7:c.2128+159_2128+160delinsGA	ENSP00000358748.3:n.2128+159_2128+160delinsGA
NM_000494.3:c.2128+159_2128+160delinsGA	NP_000485.3:n.2128+159_2128+160delinsGA
NM_000494.4:c.2128+159_2128+160delinsGA MANE Select	NP_000485.3:n.2128+159_2128+160delinsGA