Canonical Allele Identifier: CA2739241486
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2148395722
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736515_153736516insGGTGGATGTGG , CM000685.2:g.153736515_153736516insGGTGGATGTGG GRCh38
NC_000023.10:g.153001969_153001970insGGTGGATGTGG , CM000685.1:g.153001969_153001970insGGTGGATGTGG GRCh37
NC_000023.9:g.152655163_152655164insGGTGGATGTGG NCBI36
NG_009022.2:g.16648_16649insGGTGGATGTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1393+2_1393+3insGGTGGATGTGG MANE Select ENSP00000218104.3:n.1393+2_1393+3insGGTGG...
ENST00000218104.5:c.1393+2_1393+3insGGTGGATGTGG ENSP00000218104.3:n.1393+2_1393+3insGGTGG...
ENST00000443684.2:n.396+2_396+3insGGTGGATGTGG
NM_000033.3:c.1393+2_1393+3insGGTGGATGTGG NP_000024.2:n.1393+2_1393+3insGGTGGATGTGG...
XR_938507.1:n.1809+2_1809+3insGGTGGATGTGG
XR_938507.2:n.1809+2_1809+3insGGTGGATGTGG
NM_000033.4:c.1393+2_1393+3insGGTGGATGTGG MANE Select NP_000024.2:n.1393+2_1393+3insGGTGGATGTGG...
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