Canonical Allele Identifier: CA2789321330

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104057179_104057180del , CM000672.2:g.104057179_104057180del	GRCh38
NC_000010.10:g.105816937_105816938del , CM000672.1:g.105816937_105816938del	GRCh37
NC_000010.9:g.105806927_105806928del	NCBI36
NG_007069.1:g.33702_33703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1268-7_1268-6del	ENSP00000358748.3:n.1268-7_1268-6del
ENST00000648076.2:c.1268-7_1268-6del MANE Select	ENSP00000497653.1:n.1268-7_1268-6del
ENST00000650263.1:c.1220-7_1220-6del	ENSP00000497850.1:n.1220-7_1220-6del
ENST00000353479.9:c.1268-7_1268-6del	ENSP00000340937.5:n.1268-7_1268-6del
ENST00000369733.7:c.1268-7_1268-6del	ENSP00000358748.3:n.1268-7_1268-6del
NM_000494.3:c.1268-7_1268-6del	NP_000485.3:n.1268-7_1268-6del
NM_000494.4:c.1268-7_1268-6del MANE Select	NP_000485.3:n.1268-7_1268-6del