Canonical Allele Identifier: CA2574660686

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034696_104034722del , CM000672.2:g.104034696_104034722del	GRCh38
NC_000010.10:g.105794454_105794480del , CM000672.1:g.105794454_105794480del	GRCh37
NC_000010.9:g.105784444_105784470del	NCBI36
NG_007069.1:g.56159_56185del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3419_3445del	ENSP00000358748.3:p.Pro1140_Val1149delins...
ENST00000648076.2:c.3665_3691del MANE Select	ENSP00000497653.1:p.Pro1222_Val1231delins...
ENST00000353479.9:c.3665_3691del	ENSP00000340937.5:p.Pro1222_Val1231delins...
ENST00000369733.7:c.3419_3445del	ENSP00000358748.3:p.Pro1140_Val1149delins...
NM_000494.3:c.3665_3691del	NP_000485.3:p.Pro1222_Val1231delinsLeu
NM_000494.4:c.3665_3691del MANE Select	NP_000485.3:p.Pro1222_Val1231delinsLeu