Canonical Allele Identifier: CA2610796365

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104034325-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034326del , CM000672.2:g.104034326del	GRCh38
NC_000010.10:g.105794084del , CM000672.1:g.105794084del	GRCh37
NC_000010.9:g.105784074del	NCBI36
NG_007069.1:g.56555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3529del	ENSP00000358748.3:p.Val1177CysfsTer?
ENST00000648076.2:c.3775del MANE Select	ENSP00000497653.1:p.Val1259CysfsTer?
ENST00000353479.9:c.3775del	ENSP00000340937.5:p.Val1259CysfsTer?
ENST00000369733.7:c.3529del	ENSP00000358748.3:p.Val1177CysfsTer?
NM_000494.3:c.3775del	NP_000485.3:p.Val1259CysfsTer?
NM_000494.4:c.3775del MANE Select	NP_000485.3:p.Val1259CysfsTer?