Canonical Allele Identifier: CA212450359

Gene: COL17A1

Linked Data

• dbSNP Id: rs111346864
• gnomAD v2: 10-105794147-CTT-C
• gnomAD v3: 10-104034389-CTT-C
• gnomAD v4: 10-104034389-CTT-C
• MyVariant Identifiers: chr10:g.105794148_105794149del (hg19) ; chr10:g.104034390_104034391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034390_104034391del , CM000672.2:g.104034390_104034391del	GRCh38
NC_000010.10:g.105794148_105794149del , CM000672.1:g.105794148_105794149del	GRCh37
NC_000010.9:g.105784138_105784139del	NCBI36
NG_007069.1:g.56490_56491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-57_3521-56del	ENSP00000358748.3:n.3521-57_3521-56del
ENST00000648076.2:c.3767-57_3767-56del MANE Select	ENSP00000497653.1:n.3767-57_3767-56del
ENST00000353479.9:c.3767-57_3767-56del	ENSP00000340937.5:n.3767-57_3767-56del
ENST00000369733.7:c.3521-57_3521-56del	ENSP00000358748.3:n.3521-57_3521-56del
NM_000494.3:c.3767-57_3767-56del	NP_000485.3:n.3767-57_3767-56del
NM_000494.4:c.3767-57_3767-56del MANE Select	NP_000485.3:n.3767-57_3767-56del