Canonical Allele Identifier: CA1933389822
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038223_104038227delinsGACAC , CM000672.2:g.104038223_104038227delinsGACAC GRCh38
NC_000010.10:g.105797981_105797985delinsGACAC , CM000672.1:g.105797981_105797985delinsGACAC GRCh37
NC_000010.9:g.105787971_105787975delinsGACAC NCBI36
NG_007069.1:g.52654_52658delinsGTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+179_2935+183delinsGTGTC ENSP00000358748.3:n.2935+179_2935+183delinsGTGTC
ENST00000648076.2:c.3070+179_3070+183delinsGTGTC MANE Select ENSP00000497653.1:n.3070+179_3070+183delinsGTGTC
ENST00000353479.9:c.3070+179_3070+183delinsGTGTC ENSP00000340937.5:n.3070+179_3070+183delinsGTGTC
ENST00000369733.7:c.2935+179_2935+183delinsGTGTC ENSP00000358748.3:n.2935+179_2935+183delinsGTGTC
NM_000494.3:c.3070+179_3070+183delinsGTGTC NP_000485.3:n.3070+179_3070+183delinsGTGTC
NM_000494.4:c.3070+179_3070+183delinsGTGTC MANE Select NP_000485.3:n.3070+179_3070+183delinsGTGTC
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