Canonical Allele Identifier: CA659182536

Gene: COL17A1

Linked Data

• dbSNP Id: rs1380671017
• MyVariant Identifiers: chr10:g.105797974_105797975del (hg19) ; chr10:g.104038216_104038217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038219_104038220del , CM000672.2:g.104038219_104038220del	GRCh38
NC_000010.10:g.105797977_105797978del , CM000672.1:g.105797977_105797978del	GRCh37
NC_000010.9:g.105787967_105787968del	NCBI36
NG_007069.1:g.52664_52665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+189_2935+190del	ENSP00000358748.3:n.2935+189_2935+190del
ENST00000648076.2:c.3070+189_3070+190del MANE Select	ENSP00000497653.1:n.3070+189_3070+190del
ENST00000353479.9:c.3070+189_3070+190del	ENSP00000340937.5:n.3070+189_3070+190del
ENST00000369733.7:c.2935+189_2935+190del	ENSP00000358748.3:n.2935+189_2935+190del
NM_000494.3:c.3070+189_3070+190del	NP_000485.3:n.3070+189_3070+190del
NM_000494.4:c.3070+189_3070+190del MANE Select	NP_000485.3:n.3070+189_3070+190del