Canonical Allele Identifier: CA595674030
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1294752
ClinVar RCV Id: RCV001720656
dbSNP Id: rs59808906
gnomAD v2: 10-105797989-TACACACACAC-T
gnomAD v3: 10-104038231-TACACACACAC-T
gnomAD v4: 10-104038231-TACACACACAC-T
MyVariant Identifiers: chr10:g.105798002_105798011del (hg19) chr10:g.105797990_105797999del (hg19) chr10:g.104038244_104038253del (hg38) chr10:g.104038232_104038241del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038272_104038281del , CM000672.2:g.104038272_104038281del GRCh38
NC_000010.10:g.105798030_105798039del , CM000672.1:g.105798030_105798039del GRCh37
NC_000010.9:g.105788020_105788029del NCBI36
NG_007069.1:g.52640_52649del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2935+165_2935+174del ENSP00000358748.3:n.2935+165_2935+174del
ENST00000648076.2:c.3070+165_3070+174del MANE Select ENSP00000497653.1:n.3070+165_3070+174del
ENST00000353479.9:c.3070+165_3070+174del ENSP00000340937.5:n.3070+165_3070+174del
ENST00000369733.7:c.2935+165_2935+174del ENSP00000358748.3:n.2935+165_2935+174del
NM_000494.3:c.3070+165_3070+174del NP_000485.3:n.3070+165_3070+174del
NM_000494.4:c.3070+165_3070+174del MANE Select NP_000485.3:n.3070+165_3070+174del
Search 100 bp 5'
Search 100 bp 3'