Canonical Allele Identifier: CA1512245430
Gene: AADAT HGNC NCBI

Linked Data

dbSNP Id: rs1731914737

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.170073938del , CM000666.2:g.170073938del GRCh38
NC_000004.11:g.170995089del , CM000666.1:g.170995089del GRCh37
NC_000004.10:g.171231664del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000337664.9:c.445-592del MANE Select ENSP00000336808.4:n.445-592del
ENST00000337664.8:c.445-592del ENSP00000336808.4:n.445-592del
ENST00000353187.6:c.445-592del ENSP00000226840.4:n.445-592del
ENST00000502392.1:c.445-592del ENSP00000423843.1:n.445-592del
ENST00000505906.1:n.244-592del
ENST00000507375.5:c.445-592del ENSP00000421389.1:n.445-592del
ENST00000509167.5:c.457-592del ENSP00000423190.1:n.457-592del
ENST00000510340.5:c.418-592del ENSP00000425067.1:n.418-592del
ENST00000515480.5:c.445-592del ENSP00000423341.1:n.445-592del
NM_001286682.1:c.457-592del NP_001273611.1:n.457-592del
NM_001286683.1:c.445-592del NP_001273612.1:n.445-592del
NM_016228.3:c.445-592del NP_057312.1:n.445-592del
NM_182662.1:c.445-592del NP_872603.1:n.445-592del
XM_006714231.2:c.562-592del XP_006714294.1:n.562-592del
XM_011532020.1:c.100-592del XP_011530322.1:n.100-592del
XM_011532020.2:c.100-592del XP_011530322.1:n.100-592del
XM_024454077.1:c.445-592del XP_024309845.1:n.445-592del
NM_016228.4:c.445-592del MANE Select NP_057312.1:n.445-592del
NM_001286682.2:c.457-592del NP_001273611.1:n.457-592del
NM_182662.2:c.445-592del NP_872603.1:n.445-592del