Canonical Allele Identifier: CA1933389824

Gene: COL17A1

Linked Data

• dbSNP Id: rs2086321012

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038231_104038274del , CM000672.2:g.104038231_104038274del	GRCh38
NC_000010.10:g.105797989_105798032del , CM000672.1:g.105797989_105798032del	GRCh37
NC_000010.9:g.105787979_105788022del	NCBI36
NG_007069.1:g.52614_52657del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+139_2935+182del	ENSP00000358748.3:n.2935+139_2935+182del
ENST00000648076.2:c.3070+139_3070+182del MANE Select	ENSP00000497653.1:n.3070+139_3070+182del
ENST00000353479.9:c.3070+139_3070+182del	ENSP00000340937.5:n.3070+139_3070+182del
ENST00000369733.7:c.2935+139_2935+182del	ENSP00000358748.3:n.2935+139_2935+182del
NM_000494.3:c.3070+139_3070+182del	NP_000485.3:n.3070+139_3070+182del
NM_000494.4:c.3070+139_3070+182del MANE Select	NP_000485.3:n.3070+139_3070+182del