Canonical Allele Identifier: CA1933418603

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034427_104034429delinsCCT , CM000672.2:g.104034427_104034429delinsCCT	GRCh38
NC_000010.10:g.105794185_105794187delinsCCT , CM000672.1:g.105794185_105794187delinsCCT	GRCh37
NC_000010.9:g.105784175_105784177delinsCCT	NCBI36
NG_007069.1:g.56452_56454delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-95_3521-93delinsAGG	ENSP00000358748.3:n.3521-95_3521-93delinsAGG
ENST00000648076.2:c.3767-95_3767-93delinsAGG MANE Select	ENSP00000497653.1:n.3767-95_3767-93delinsAGG
ENST00000353479.9:c.3767-95_3767-93delinsAGG	ENSP00000340937.5:n.3767-95_3767-93delinsAGG
ENST00000369733.7:c.3521-95_3521-93delinsAGG	ENSP00000358748.3:n.3521-95_3521-93delinsAGG
NM_000494.3:c.3767-95_3767-93delinsAGG	NP_000485.3:n.3767-95_3767-93delinsAGG
NM_000494.4:c.3767-95_3767-93delinsAGG MANE Select	NP_000485.3:n.3767-95_3767-93delinsAGG