Canonical Allele Identifier: CA2589049568

Gene: COL17A1

Linked Data

• dbSNP Id: rs2134564813
• gnomAD v3: 10-104034388-ACTTGGGAGTTAGG-A
• gnomAD v4: 10-104034388-ACTTGGGAGTTAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034389_104034401del , CM000672.2:g.104034389_104034401del	GRCh38
NC_000010.10:g.105794147_105794159del , CM000672.1:g.105794147_105794159del	GRCh37
NC_000010.9:g.105784137_105784149del	NCBI36
NG_007069.1:g.56480_56492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-67_3521-55del	ENSP00000358748.3:n.3521-67_3521-55del
ENST00000648076.2:c.3767-67_3767-55del MANE Select	ENSP00000497653.1:n.3767-67_3767-55del
ENST00000353479.9:c.3767-67_3767-55del	ENSP00000340937.5:n.3767-67_3767-55del
ENST00000369733.7:c.3521-67_3521-55del	ENSP00000358748.3:n.3521-67_3521-55del
NM_000494.3:c.3767-67_3767-55del	NP_000485.3:n.3767-67_3767-55del
NM_000494.4:c.3767-67_3767-55del MANE Select	NP_000485.3:n.3767-67_3767-55del