Canonical Allele Identifier: CA1933399627
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086458699
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050554_104050555insA , CM000672.2:g.104050554_104050555insA GRCh38
NC_000010.10:g.105810312_105810313insA , CM000672.1:g.105810312_105810313insA GRCh37
NC_000010.9:g.105800302_105800303insA NCBI36
NG_007069.1:g.40326_40327insT

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+66_2128+67insT ENSP00000358748.3:n.2128+66_2128+67insT
ENST00000648076.2:c.2128+66_2128+67insT MANE Select ENSP00000497653.1:n.2128+66_2128+67insT
ENST00000353479.9:c.2128+66_2128+67insT ENSP00000340937.5:n.2128+66_2128+67insT
ENST00000369733.7:c.2128+66_2128+67insT ENSP00000358748.3:n.2128+66_2128+67insT
NM_000494.3:c.2128+66_2128+67insT NP_000485.3:n.2128+66_2128+67insT
NM_000494.4:c.2128+66_2128+67insT MANE Select NP_000485.3:n.2128+66_2128+67insT
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