Canonical Allele Identifier: CA2695212675

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034314_104034317del , CM000672.2:g.104034314_104034317del	GRCh38
NC_000010.10:g.105794072_105794075del , CM000672.1:g.105794072_105794075del	GRCh37
NC_000010.9:g.105784062_105784065del	NCBI36
NG_007069.1:g.56566_56569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3540_3543del	ENSP00000358748.3:p.Phe1180LeufsTer?
ENST00000648076.2:c.3786_3789del MANE Select	ENSP00000497653.1:p.Phe1262LeufsTer?
ENST00000353479.9:c.3786_3789del	ENSP00000340937.5:p.Phe1262LeufsTer?
ENST00000369733.7:c.3540_3543del	ENSP00000358748.3:p.Phe1180LeufsTer?
NM_000494.3:c.3786_3789del	NP_000485.3:p.Phe1262LeufsTer?
NM_000494.4:c.3786_3789del MANE Select	NP_000485.3:p.Phe1262LeufsTer?