Canonical Allele Identifier: CA5677695
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs759186888
ExAC: 10:105793667 TC / T
gnomAD v2: 10-105793667-TC-T
gnomAD v3: 10-104033909-TC-T
gnomAD v4: 10-104033909-TC-T
MyVariant Identifiers: chr10:g.105793668del (hg19) chr10:g.104033910del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033915del , CM000672.2:g.104033915del GRCh38
NC_000010.10:g.105793673del , CM000672.1:g.105793673del GRCh37
NC_000010.9:g.105783663del NCBI36
NG_007069.1:g.56971del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3910+35del ENSP00000358748.3:n.3910+35del
ENST00000647647.1:c.186+35del
ENST00000648076.2:c.4156+35del MANE Select ENSP00000497653.1:n.4156+35del
ENST00000353479.9:c.4156+35del ENSP00000340937.5:n.4156+35del
ENST00000369733.7:c.3910+35del ENSP00000358748.3:n.3910+35del
NM_000494.3:c.4156+35del NP_000485.3:n.4156+35del
NM_000494.4:c.4156+35del MANE Select NP_000485.3:n.4156+35del
Search 100 bp 5'
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