Canonical Allele Identifier: CA1933417703
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033909_104033910delinsTC , CM000672.2:g.104033909_104033910delinsTC GRCh38
NC_000010.10:g.105793667_105793668delinsTC , CM000672.1:g.105793667_105793668delinsTC GRCh37
NC_000010.9:g.105783657_105783658delinsTC NCBI36
NG_007069.1:g.56971_56972delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3910+35_3910+36delinsGA ENSP00000358748.3:n.3910+35_3910+36delins...
ENST00000647647.1:c.186+35_186+36delinsGA
ENST00000648076.2:c.4156+35_4156+36delinsGA MANE Select ENSP00000497653.1:n.4156+35_4156+36delins...
ENST00000353479.9:c.4156+35_4156+36delinsGA ENSP00000340937.5:n.4156+35_4156+36delins...
ENST00000369733.7:c.3910+35_3910+36delinsGA ENSP00000358748.3:n.3910+35_3910+36delins...
NM_000494.3:c.4156+35_4156+36delinsGA NP_000485.3:n.4156+35_4156+36delinsGA
NM_000494.4:c.4156+35_4156+36delinsGA MANE Select NP_000485.3:n.4156+35_4156+36delinsGA
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