Canonical Allele Identifier: CA1933389812

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038223_104038233delinsGACACACATAC , CM000672.2:g.104038223_104038233delinsGACACACATAC	GRCh38
NC_000010.10:g.105797981_105797991delinsGACACACATAC , CM000672.1:g.105797981_105797991delinsGACACACATAC	GRCh37
NC_000010.9:g.105787971_105787981delinsGACACACATAC	NCBI36
NG_007069.1:g.52648_52658delinsGTATGTGTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+173_2935+183delinsGTATGTGTGTC	ENSP00000358748.3:n.2935+173_2935+183delinsGTATGTGTGTC
ENST00000648076.2:c.3070+173_3070+183delinsGTATGTGTGTC MANE Select	ENSP00000497653.1:n.3070+173_3070+183delinsGTATGTGTGTC
ENST00000353479.9:c.3070+173_3070+183delinsGTATGTGTGTC	ENSP00000340937.5:n.3070+173_3070+183delinsGTATGTGTGTC
ENST00000369733.7:c.2935+173_2935+183delinsGTATGTGTGTC	ENSP00000358748.3:n.2935+173_2935+183delinsGTATGTGTGTC
NM_000494.3:c.3070+173_3070+183delinsGTATGTGTGTC	NP_000485.3:n.3070+173_3070+183delinsGTATGTGTGTC
NM_000494.4:c.3070+173_3070+183delinsGTATGTGTGTC MANE Select	NP_000485.3:n.3070+173_3070+183delinsGTATGTGTGTC