Canonical Allele Identifier: CA1933389820

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038223_104038255delinsGACACACATACACACACACACACACACACACAC , CM000672.2:g.104038223_104038255delinsGACACACATACACACACACACACACACACACAC	GRCh38
NC_000010.10:g.105797981_105798013delinsGACACACATACACACACACACACACACACACAC , CM000672.1:g.105797981_105798013delinsGACACACATACACACACACACACACACACACAC	GRCh37
NC_000010.9:g.105787971_105788003delinsGACACACATACACACACACACACACACACACAC	NCBI36
NG_007069.1:g.52626_52658delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000648076.2:c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC MANE Select	ENSP00000497653.1:n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000353479.9:c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000340937.5:n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000369733.7:c.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGT...
NM_000494.3:c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	NP_000485.3:n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGT...
NM_000494.4:c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC MANE Select	NP_000485.3:n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGT...