Canonical Allele Identifier: CA659182589

Gene: COL17A1

Linked Data

• dbSNP Id: rs1170048144
• gnomAD v3: 10-104038223-G-GAC
• gnomAD v4: 10-104038223-G-GAC
• MyVariant Identifiers: chr10:g.105797981_105797982insAC (hg19) ; chr10:g.104038223_104038224insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038229_104038230dup , CM000672.2:g.104038229_104038230dup	GRCh38
NC_000010.10:g.105797987_105797988dup , CM000672.1:g.105797987_105797988dup	GRCh37
NC_000010.9:g.105787977_105787978dup	NCBI36
NG_007069.1:g.52656_52657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2935+181_2935+182dup	ENSP00000358748.3:n.2935+181_2935+182dup
ENST00000648076.2:c.3070+181_3070+182dup MANE Select	ENSP00000497653.1:n.3070+181_3070+182dup
ENST00000353479.9:c.3070+181_3070+182dup	ENSP00000340937.5:n.3070+181_3070+182dup
ENST00000369733.7:c.2935+181_2935+182dup	ENSP00000358748.3:n.2935+181_2935+182dup
NM_000494.3:c.3070+181_3070+182dup	NP_000485.3:n.3070+181_3070+182dup
NM_000494.4:c.3070+181_3070+182dup MANE Select	NP_000485.3:n.3070+181_3070+182dup