Canonical Allele Identifier: CA2789321300
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038238_104038240del , CM000672.2:g.104038238_104038240del GRCh38
NC_000010.10:g.105797996_105797998del , CM000672.1:g.105797996_105797998del GRCh37
NC_000010.9:g.105787986_105787988del NCBI36
NG_007069.1:g.52641_52643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+166_2935+168del ENSP00000358748.3:n.2935+166_2935+168del
ENST00000648076.2:c.3070+166_3070+168del MANE Select ENSP00000497653.1:n.3070+166_3070+168del
ENST00000353479.9:c.3070+166_3070+168del ENSP00000340937.5:n.3070+166_3070+168del
ENST00000369733.7:c.2935+166_2935+168del ENSP00000358748.3:n.2935+166_2935+168del
NM_000494.3:c.3070+166_3070+168del NP_000485.3:n.3070+166_3070+168del
NM_000494.4:c.3070+166_3070+168del MANE Select NP_000485.3:n.3070+166_3070+168del
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