Canonical Allele Identifier: CA212450319

Gene: COL17A1

Linked Data

• dbSNP Id: rs903694312
• gnomAD v2: 10-105794101-TGA-T
• gnomAD v3: 10-104034343-TGA-T
• gnomAD v4: 10-104034343-TGA-T
• MyVariant Identifiers: chr10:g.105794102_105794103del (hg19) ; chr10:g.104034344_104034345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034346_104034347del , CM000672.2:g.104034346_104034347del	GRCh38
NC_000010.10:g.105794104_105794105del , CM000672.1:g.105794104_105794105del	GRCh37
NC_000010.9:g.105784094_105784095del	NCBI36
NG_007069.1:g.56536_56537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-11_3521-10del	ENSP00000358748.3:n.3521-11_3521-10del
ENST00000648076.2:c.3767-11_3767-10del MANE Select	ENSP00000497653.1:n.3767-11_3767-10del
ENST00000353479.9:c.3767-11_3767-10del	ENSP00000340937.5:n.3767-11_3767-10del
ENST00000369733.7:c.3521-11_3521-10del	ENSP00000358748.3:n.3521-11_3521-10del
NM_000494.3:c.3767-11_3767-10del	NP_000485.3:n.3767-11_3767-10del
NM_000494.4:c.3767-11_3767-10del MANE Select	NP_000485.3:n.3767-11_3767-10del