Canonical Allele Identifier: CA2610801164
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104057189-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057193del , CM000672.2:g.104057193del GRCh38
NC_000010.10:g.105816951del , CM000672.1:g.105816951del GRCh37
NC_000010.9:g.105806941del NCBI36
NG_007069.1:g.33691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1268-18del ENSP00000358748.3:n.1268-18del
ENST00000648076.2:c.1268-18del MANE Select ENSP00000497653.1:n.1268-18del
ENST00000650263.1:c.1220-18del ENSP00000497850.1:n.1220-18del
ENST00000353479.9:c.1268-18del ENSP00000340937.5:n.1268-18del
ENST00000369733.7:c.1268-18del ENSP00000358748.3:n.1268-18del
NM_000494.3:c.1268-18del NP_000485.3:n.1268-18del
NM_000494.4:c.1268-18del MANE Select NP_000485.3:n.1268-18del
Search 100 bp 5'
Search 100 bp 3'