Canonical Allele Identifier: CA659194831

Gene: COL17A1

Linked Data

• dbSNP Id: rs1478285357
• MyVariant Identifiers: chr10:g.105794458_105794467del (hg19) ; chr10:g.104034700_104034709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034702_104034711del , CM000672.2:g.104034702_104034711del	GRCh38
NC_000010.10:g.105794460_105794469del , CM000672.1:g.105794460_105794469del	GRCh37
NC_000010.9:g.105784450_105784459del	NCBI36
NG_007069.1:g.56172_56181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3432_3441del	ENSP00000358748.3:p.Gly1145ValfsTer21
ENST00000648076.2:c.3678_3687del MANE Select	ENSP00000497653.1:p.Gly1227ValfsTer21
ENST00000353479.9:c.3678_3687del	ENSP00000340937.5:p.Gly1227ValfsTer21
ENST00000369733.7:c.3432_3441del	ENSP00000358748.3:p.Gly1145ValfsTer21
NM_000494.3:c.3678_3687del	NP_000485.3:p.Gly1227ValfsTer21
NM_000494.4:c.3678_3687del MANE Select	NP_000485.3:p.Gly1227ValfsTer21