Canonical Allele Identifier: CA212459013

Gene: COL17A1

Linked Data

• dbSNP Id: rs59808906
• gnomAD v3: 10-104038231-TACACACAC-T
• gnomAD v4: 10-104038231-TACACACAC-T
• MyVariant Identifiers: chr10:g.105797990_105797997del (hg19) ; chr10:g.104038232_104038239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038274_104038281del , CM000672.2:g.104038274_104038281del	GRCh38
NC_000010.10:g.105798032_105798039del , CM000672.1:g.105798032_105798039del	GRCh37
NC_000010.9:g.105788022_105788029del	NCBI36
NG_007069.1:g.52642_52649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+167_2935+174del	ENSP00000358748.3:n.2935+167_2935+174del
ENST00000648076.2:c.3070+167_3070+174del MANE Select	ENSP00000497653.1:n.3070+167_3070+174del
ENST00000353479.9:c.3070+167_3070+174del	ENSP00000340937.5:n.3070+167_3070+174del
ENST00000369733.7:c.2935+167_2935+174del	ENSP00000358748.3:n.2935+167_2935+174del
NM_000494.3:c.3070+167_3070+174del	NP_000485.3:n.3070+167_3070+174del
NM_000494.4:c.3070+167_3070+174del MANE Select	NP_000485.3:n.3070+167_3070+174del