Canonical Allele Identifier: CA960478
Community Standard Title: NM_002858.4(ABCD3):c.1530+12del
Gene: ABCD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94498860del , CM000663.2:g.94498860del GRCh38
NC_000001.10:g.94964416del , CM000663.1:g.94964416del GRCh37
NC_000001.9:g.94737004del NCBI36
NG_008865.1:g.85484del

Transcript Alleles

HGVS Amino-acid Change
NM_002858.4:c.1530+12del MANE Select NP_002849.1:n.1530+12del
ENST00000370214.9:c.1530+12del MANE Select ENSP00000359233.4:n.1530+12del
NM_002858.3:c.1530+12del NP_002849.1:n.1530+12del
ENST00000370214.8:c.1530+12del ENSP00000359233.4:n.1530+12del
ENST00000484213.1:n.2380+12del
ENST00000647998.2:c.1530+12del ENSP00000497921.2:n.1530+12del
XM_005271089.2:c.1437+12del XP_005271146.1:n.1437+12del
XM_006710802.2:c.1602+12del XP_006710865.2:n.1602+12del
XM_011541877.1:c.594+12del XP_011540179.1:n.594+12del