Canonical Allele Identifier: CA1908701573
Gene: DRGX HGNC NCBI

Linked Data

dbSNP Id: rs1849623811
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49368619_49368645del , CM000672.2:g.49368619_49368645del GRCh38
NC_000010.10:g.50576664_50576690del , CM000672.1:g.50576664_50576690del GRCh37
NC_000010.9:g.50246670_50246696del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374139.8:c.527-2263_527-2237del MANE Select ENSP00000363254.1:n.527-2263_527-2237del
ENST00000374139.6:c.527-2263_527-2237del ENSP00000363254.1:n.527-2263_527-2237del
ENST00000434016.2:c.527-2263_527-2237del ENSP00000401653.2:n.527-2263_527-2237del
NM_001276451.1:c.527-2263_527-2237del NP_001263380.1:n.527-2263_527-2237del
XM_011540089.1:c.632-2263_632-2237del XP_011538391.1:n.632-2263_632-2237del
XM_011540090.1:c.212-2263_212-2237del XP_011538392.1:n.212-2263_212-2237del
XM_011540089.3:c.632-2263_632-2237del XP_011538391.1:n.632-2263_632-2237del
NM_001276451.2:c.527-2263_527-2237del MANE Select NP_001263380.1:n.527-2263_527-2237del
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