Canonical Allele Identifier: CA5679313
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2724556
ClinVar RCV Id: RCV003561738
dbSNP Id: rs772530995
ExAC: 10:105824186 CG / C
gnomAD v2: 10-105824186-CG-C
gnomAD v3: 10-104064428-CG-C
gnomAD v4: 10-104064428-CG-C
MyVariant Identifiers: chr10:g.105824187del (hg19) chr10:g.104064429del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064429del , CM000672.2:g.104064429del GRCh38
NC_000010.10:g.105824187del , CM000672.1:g.105824187del GRCh37
NC_000010.9:g.105814177del NCBI36
NG_007069.1:g.26452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.766+9del ENSP00000358748.3:n.766+9del
ENST00000648076.2:c.766+9del MANE Select ENSP00000497653.1:n.766+9del
ENST00000649118.1:n.881+9del
ENST00000650263.1:c.718+9del ENSP00000497850.1:n.718+9del
ENST00000353479.9:c.766+9del ENSP00000340937.5:n.766+9del
ENST00000369733.7:c.766+9del ENSP00000358748.3:n.766+9del
ENST00000393211.3:c.766+9del ENSP00000376905.3:n.766+9del
ENST00000488320.1:n.111+9del
NM_000494.3:c.766+9del NP_000485.3:n.766+9del
NM_000494.4:c.766+9del MANE Select NP_000485.3:n.766+9del
Search 100 bp 5'
Search 100 bp 3'