Canonical Allele Identifier: CA1933377703
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086672499
gnomAD v4: 10-104071931-TGCATGCATGCACACACACACGCATGCACACACACACACACACACA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071935_104071979del , CM000672.2:g.104071935_104071979del GRCh38
NC_000010.10:g.105831693_105831737del , CM000672.1:g.105831693_105831737del GRCh37
NC_000010.9:g.105821683_105821727del NCBI36
NG_007069.1:g.18905_18949del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+56_463+100del ENSP00000358748.3:n.463+56_463+100del
ENST00000648076.2:c.463+56_463+100del MANE Select ENSP00000497653.1:n.463+56_463+100del
ENST00000649118.1:n.578+56_578+100del
ENST00000650263.1:c.415+56_415+100del ENSP00000497850.1:n.415+56_415+100del
ENST00000353479.9:c.463+56_463+100del ENSP00000340937.5:n.463+56_463+100del
ENST00000369733.7:c.463+56_463+100del ENSP00000358748.3:n.463+56_463+100del
ENST00000393211.3:c.463+56_463+100del ENSP00000376905.3:n.463+56_463+100del
ENST00000483876.1:n.513+56_513+100del
NM_000494.3:c.463+56_463+100del NP_000485.3:n.463+56_463+100del
NM_000494.4:c.463+56_463+100del MANE Select NP_000485.3:n.463+56_463+100del
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