Canonical Allele Identifier: CA2610796427

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104034386-AGACTTGGGAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034387_104034398del , CM000672.2:g.104034387_104034398del	GRCh38
NC_000010.10:g.105794145_105794156del , CM000672.1:g.105794145_105794156del	GRCh37
NC_000010.9:g.105784135_105784146del	NCBI36
NG_007069.1:g.56483_56494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-64_3521-53del	ENSP00000358748.3:n.3521-64_3521-53del
ENST00000648076.2:c.3767-64_3767-53del MANE Select	ENSP00000497653.1:n.3767-64_3767-53del
ENST00000353479.9:c.3767-64_3767-53del	ENSP00000340937.5:n.3767-64_3767-53del
ENST00000369733.7:c.3521-64_3521-53del	ENSP00000358748.3:n.3521-64_3521-53del
NM_000494.3:c.3767-64_3767-53del	NP_000485.3:n.3767-64_3767-53del
NM_000494.4:c.3767-64_3767-53del MANE Select	NP_000485.3:n.3767-64_3767-53del