Canonical Allele Identifier: CA1933389811

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038221_104038233delinsTAGACACACATAC , CM000672.2:g.104038221_104038233delinsTAGACACACATAC	GRCh38
NC_000010.10:g.105797979_105797991delinsTAGACACACATAC , CM000672.1:g.105797979_105797991delinsTAGACACACATAC	GRCh37
NC_000010.9:g.105787969_105787981delinsTAGACACACATAC	NCBI36
NG_007069.1:g.52648_52660delinsGTATGTGTGTCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+173_2935+185delinsGTATGTGTGTCTA	ENSP00000358748.3:n.2935+173_2935+185delinsGTATGTGTGTCTA
ENST00000648076.2:c.3070+173_3070+185delinsGTATGTGTGTCTA MANE Select	ENSP00000497653.1:n.3070+173_3070+185delinsGTATGTGTGTCTA
ENST00000353479.9:c.3070+173_3070+185delinsGTATGTGTGTCTA	ENSP00000340937.5:n.3070+173_3070+185delinsGTATGTGTGTCTA
ENST00000369733.7:c.2935+173_2935+185delinsGTATGTGTGTCTA	ENSP00000358748.3:n.2935+173_2935+185delinsGTATGTGTGTCTA
NM_000494.3:c.3070+173_3070+185delinsGTATGTGTGTCTA	NP_000485.3:n.3070+173_3070+185delinsGTATGTGTGTCTA
NM_000494.4:c.3070+173_3070+185delinsGTATGTGTGTCTA MANE Select	NP_000485.3:n.3070+173_3070+185delinsGTATGTGTGTCTA