Canonical Allele Identifier: CA2722591122

Gene: COL17A1

Linked Data

• dbSNP Id: rs2134605997

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104050602del , CM000672.2:g.104050602del	GRCh38
NC_000010.10:g.105810360del , CM000672.1:g.105810360del	GRCh37
NC_000010.9:g.105800350del	NCBI36
NG_007069.1:g.40279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2128+19del	ENSP00000358748.3:n.2128+19del
ENST00000648076.2:c.2128+19del MANE Select	ENSP00000497653.1:n.2128+19del
ENST00000353479.9:c.2128+19del	ENSP00000340937.5:n.2128+19del
ENST00000369733.7:c.2128+19del	ENSP00000358748.3:n.2128+19del
NM_000494.3:c.2128+19del	NP_000485.3:n.2128+19del
NM_000494.4:c.2128+19del MANE Select	NP_000485.3:n.2128+19del