Canonical Allele Identifier: CA2722590356
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2134578374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038223_104038238del , CM000672.2:g.104038223_104038238del GRCh38
NC_000010.10:g.105797981_105797996del , CM000672.1:g.105797981_105797996del GRCh37
NC_000010.9:g.105787971_105787986del NCBI36
NG_007069.1:g.52644_52659del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2935+169_2935+184del ENSP00000358748.3:n.2935+169_2935+184del
ENST00000648076.2:c.3070+169_3070+184del MANE Select ENSP00000497653.1:n.3070+169_3070+184del
ENST00000353479.9:c.3070+169_3070+184del ENSP00000340937.5:n.3070+169_3070+184del
ENST00000369733.7:c.2935+169_2935+184del ENSP00000358748.3:n.2935+169_2935+184del
NM_000494.3:c.3070+169_3070+184del NP_000485.3:n.3070+169_3070+184del
NM_000494.4:c.3070+169_3070+184del MANE Select NP_000485.3:n.3070+169_3070+184del
Search 100 bp 5'
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