Canonical Allele Identifier: CA2574660997

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038346del , CM000672.2:g.104038346del	GRCh38
NC_000010.10:g.105798104del , CM000672.1:g.105798104del	GRCh37
NC_000010.9:g.105788094del	NCBI36
NG_007069.1:g.52536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+61del	ENSP00000358748.3:n.2935+61del
ENST00000648076.2:c.3070+61del MANE Select	ENSP00000497653.1:n.3070+61del
ENST00000353479.9:c.3070+61del	ENSP00000340937.5:n.3070+61del
ENST00000369733.7:c.2935+61del	ENSP00000358748.3:n.2935+61del
NM_000494.3:c.3070+61del	NP_000485.3:n.3070+61del
NM_000494.4:c.3070+61del MANE Select	NP_000485.3:n.3070+61del