Canonical Allele Identifier: CA1933389817
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038223_104038237delinsGACACACATACACAC , CM000672.2:g.104038223_104038237delinsGACACACATACACAC GRCh38
NC_000010.10:g.105797981_105797995delinsGACACACATACACAC , CM000672.1:g.105797981_105797995delinsGACACACATACACAC GRCh37
NC_000010.9:g.105787971_105787985delinsGACACACATACACAC NCBI36
NG_007069.1:g.52644_52658delinsGTGTGTATGTGTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+169_2935+183delinsGTGTGTATGTGTGTC ENSP00000358748.3:n.2935+169_2935+183delinsGTGTGTATGTGTGTC
ENST00000648076.2:c.3070+169_3070+183delinsGTGTGTATGTGTGTC MANE Select ENSP00000497653.1:n.3070+169_3070+183delinsGTGTGTATGTGTGTC
ENST00000353479.9:c.3070+169_3070+183delinsGTGTGTATGTGTGTC ENSP00000340937.5:n.3070+169_3070+183delinsGTGTGTATGTGTGTC
ENST00000369733.7:c.2935+169_2935+183delinsGTGTGTATGTGTGTC ENSP00000358748.3:n.2935+169_2935+183delinsGTGTGTATGTGTGTC
NM_000494.3:c.3070+169_3070+183delinsGTGTGTATGTGTGTC NP_000485.3:n.3070+169_3070+183delinsGTGTGTATGTGTGTC
NM_000494.4:c.3070+169_3070+183delinsGTGTGTATGTGTGTC MANE Select NP_000485.3:n.3070+169_3070+183delinsGTGTGTATGTGTGTC
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