Canonical Allele Identifier: CA2707780607
Gene: AADAT HGNC NCBI

Linked Data

dbSNP Id: rs2111175444

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.170073900_170073921dup , CM000666.2:g.170073900_170073921dup GRCh38
NC_000004.11:g.170995051_170995072dup , CM000666.1:g.170995051_170995072dup GRCh37
NC_000004.10:g.171231626_171231647dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337664.9:c.445-576_445-555dup MANE Select ENSP00000336808.4:n.445-576_445-555dup
ENST00000337664.8:c.445-576_445-555dup ENSP00000336808.4:n.445-576_445-555dup
ENST00000353187.6:c.445-576_445-555dup ENSP00000226840.4:n.445-576_445-555dup
ENST00000502392.1:c.445-576_445-555dup ENSP00000423843.1:n.445-576_445-555dup
ENST00000505906.1:n.244-576_244-555dup
ENST00000507375.5:c.445-576_445-555dup ENSP00000421389.1:n.445-576_445-555dup
ENST00000509167.5:c.457-576_457-555dup ENSP00000423190.1:n.457-576_457-555dup
ENST00000510340.5:c.418-576_418-555dup ENSP00000425067.1:n.418-576_418-555dup
ENST00000515480.5:c.445-576_445-555dup ENSP00000423341.1:n.445-576_445-555dup
NM_001286682.1:c.457-576_457-555dup NP_001273611.1:n.457-576_457-555dup
NM_001286683.1:c.445-576_445-555dup NP_001273612.1:n.445-576_445-555dup
NM_016228.3:c.445-576_445-555dup NP_057312.1:n.445-576_445-555dup
NM_182662.1:c.445-576_445-555dup NP_872603.1:n.445-576_445-555dup
XM_006714231.2:c.562-576_562-555dup XP_006714294.1:n.562-576_562-555dup
XM_011532020.1:c.100-576_100-555dup XP_011530322.1:n.100-576_100-555dup
XM_011532020.2:c.100-576_100-555dup XP_011530322.1:n.100-576_100-555dup
XM_024454077.1:c.445-576_445-555dup XP_024309845.1:n.445-576_445-555dup
NM_016228.4:c.445-576_445-555dup MANE Select NP_057312.1:n.445-576_445-555dup
NM_001286682.2:c.457-576_457-555dup NP_001273611.1:n.457-576_457-555dup
NM_182662.2:c.445-576_445-555dup NP_872603.1:n.445-576_445-555dup