Canonical Allele Identifier: CA2610796422

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104034379-G-GTCGCCGTATCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034379_104034380insTCGCCGTATCATT , CM000672.2:g.104034379_104034380insTCGCCGTATCATT	GRCh38
NC_000010.10:g.105794137_105794138insTCGCCGTATCATT , CM000672.1:g.105794137_105794138insTCGCCGTATCATT	GRCh37
NC_000010.9:g.105784127_105784128insTCGCCGTATCATT	NCBI36
NG_007069.1:g.56501_56502insAATGATACGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-46_3521-45insAATGATACGGCGA	ENSP00000358748.3:n.3521-46_3521-45insAATGATACGGCGA
ENST00000648076.2:c.3767-46_3767-45insAATGATACGGCGA MANE Select	ENSP00000497653.1:n.3767-46_3767-45insAATGATACGGCGA
ENST00000353479.9:c.3767-46_3767-45insAATGATACGGCGA	ENSP00000340937.5:n.3767-46_3767-45insAATGATACGGCGA
ENST00000369733.7:c.3521-46_3521-45insAATGATACGGCGA	ENSP00000358748.3:n.3521-46_3521-45insAATGATACGGCGA
NM_000494.3:c.3767-46_3767-45insAATGATACGGCGA	NP_000485.3:n.3767-46_3767-45insAATGATACGGCGA
NM_000494.4:c.3767-46_3767-45insAATGATACGGCGA MANE Select	NP_000485.3:n.3767-46_3767-45insAATGATACGGCGA