Canonical Allele Identifier: CA2466456703
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091765519

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740866_153740867insGTT , CM000685.2:g.153740866_153740867insGTT GRCh38
NC_000023.10:g.153006320_153006321insGTT , CM000685.1:g.153006320_153006321insGTT GRCh37
NC_000023.9:g.152659514_152659515insGTT NCBI36
NG_009022.2:g.20999_21000insGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+147_1780+148insGTT MANE Select ENSP00000218104.3:n.1780+147_1780+148insGTT
ENST00000218104.5:c.1780+147_1780+148insGTT ENSP00000218104.3:n.1780+147_1780+148insGTT
NM_000033.3:c.1780+147_1780+148insGTT NP_000024.2:n.1780+147_1780+148insGTT
XR_938507.1:n.2252+147_2252+148insGTT
XR_938507.2:n.2252+147_2252+148insGTT
NM_000033.4:c.1780+147_1780+148insGTT MANE Select NP_000024.2:n.1780+147_1780+148insGTT