Canonical Allele Identifier: CA2610801324
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104038356-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038358_104038359del , CM000672.2:g.104038358_104038359del GRCh38
NC_000010.10:g.105798116_105798117del , CM000672.1:g.105798116_105798117del GRCh37
NC_000010.9:g.105788106_105788107del NCBI36
NG_007069.1:g.52523_52524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+48_2935+49del ENSP00000358748.3:n.2935+48_2935+49del
ENST00000648076.2:c.3070+48_3070+49del MANE Select ENSP00000497653.1:n.3070+48_3070+49del
ENST00000353479.9:c.3070+48_3070+49del ENSP00000340937.5:n.3070+48_3070+49del
ENST00000369733.7:c.2935+48_2935+49del ENSP00000358748.3:n.2935+48_2935+49del
NM_000494.3:c.3070+48_3070+49del NP_000485.3:n.3070+48_3070+49del
NM_000494.4:c.3070+48_3070+49del MANE Select NP_000485.3:n.3070+48_3070+49del
Search 100 bp 5'
Search 100 bp 3'