Canonical Allele Identifier: CA1933389802

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038214_104038222delinsGGACACATA , CM000672.2:g.104038214_104038222delinsGGACACATA	GRCh38
NC_000010.10:g.105797972_105797980delinsGGACACATA , CM000672.1:g.105797972_105797980delinsGGACACATA	GRCh37
NC_000010.9:g.105787962_105787970delinsGGACACATA	NCBI36
NG_007069.1:g.52659_52667delinsTATGTGTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+184_2935+192delinsTATGTGTCC	ENSP00000358748.3:n.2935+184_2935+192delinsTATGTGTCC
ENST00000648076.2:c.3070+184_3070+192delinsTATGTGTCC MANE Select	ENSP00000497653.1:n.3070+184_3070+192delinsTATGTGTCC
ENST00000353479.9:c.3070+184_3070+192delinsTATGTGTCC	ENSP00000340937.5:n.3070+184_3070+192delinsTATGTGTCC
ENST00000369733.7:c.2935+184_2935+192delinsTATGTGTCC	ENSP00000358748.3:n.2935+184_2935+192delinsTATGTGTCC
NM_000494.3:c.3070+184_3070+192delinsTATGTGTCC	NP_000485.3:n.3070+184_3070+192delinsTATGTGTCC
NM_000494.4:c.3070+184_3070+192delinsTATGTGTCC MANE Select	NP_000485.3:n.3070+184_3070+192delinsTATGTGTCC