Canonical Allele Identifier: CA595685426
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1324371196
gnomAD v2: 10-105831693-TGCATGCACACACACAC-T
gnomAD v3: 10-104071935-TGCATGCACACACACAC-T
gnomAD v4: 10-104071935-TGCATGCACACACACAC-T
MyVariant Identifiers: chr10:g.105831694_105831709del (hg19) chr10:g.104071936_104071951del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071952_104071967del , CM000672.2:g.104071952_104071967del GRCh38
NC_000010.10:g.105831710_105831725del , CM000672.1:g.105831710_105831725del GRCh37
NC_000010.9:g.105821700_105821715del NCBI36
NG_007069.1:g.18930_18945del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+81_463+96del ENSP00000358748.3:n.463+81_463+96del
ENST00000648076.2:c.463+81_463+96del MANE Select ENSP00000497653.1:n.463+81_463+96del
ENST00000649118.1:n.578+81_578+96del
ENST00000650263.1:c.415+81_415+96del ENSP00000497850.1:n.415+81_415+96del
ENST00000353479.9:c.463+81_463+96del ENSP00000340937.5:n.463+81_463+96del
ENST00000369733.7:c.463+81_463+96del ENSP00000358748.3:n.463+81_463+96del
ENST00000393211.3:c.463+81_463+96del ENSP00000376905.3:n.463+81_463+96del
ENST00000483876.1:n.513+81_513+96del
NM_000494.3:c.463+81_463+96del NP_000485.3:n.463+81_463+96del
NM_000494.4:c.463+81_463+96del MANE Select NP_000485.3:n.463+81_463+96del
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