Canonical Allele Identifier: CA2750393496
Gene: ADD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70747661_70747668del , CM000664.2:g.70747661_70747668del GRCh38
NC_000002.11:g.70974793_70974800del , CM000664.1:g.70974793_70974800del GRCh37
NC_000002.10:g.70828301_70828308del NCBI36
NG_029481.1:g.25578_25585del
NG_029481.2:g.25578_25585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264436.9:c.-154+20220_-154+20227del MANE Select ENSP00000264436.3:n.-154+20220_-154+20227del
ENST00000264436.8:c.-154+20220_-154+20227del ENSP00000264436.3:n.-154+20220_-154+20227del
ENST00000355733.7:c.-154+20220_-154+20227del ENSP00000347972.3:n.-154+20220_-154+20227del
ENST00000403045.6:c.-154+20220_-154+20227del ENSP00000384303.2:n.-154+20220_-154+20227del
ENST00000407644.6:c.-154+19938_-154+19945del ENSP00000384677.2:n.-154+19938_-154+19945del
ENST00000413157.6:c.-154+20220_-154+20227del ENSP00000388072.2:n.-154+20220_-154+20227del
ENST00000425976.5:c.-154+19664_-154+19671del ENSP00000412681.1:n.-154+19664_-154+19671del
ENST00000430656.5:c.14+20220_14+20227del ENSP00000398112.1:n.14+20220_14+20227del
ENST00000447731.6:c.-219-6260_-219-6253del ENSP00000403722.1:n.-219-6260_-219-6253del
ENST00000473232.1:n.315+20220_315+20227del
ENST00000496178.1:n.436+12940_436+12947del
NM_001185054.1:c.-154+19938_-154+19945del NP_001171983.1:n.-154+19938_-154+19945del
NM_001185055.1:c.14+20220_14+20227del NP_001171984.1:n.14+20220_14+20227del
NM_001617.3:c.-154+20220_-154+20227del NP_001608.1:n.-154+20220_-154+20227del
NM_017482.3:c.-154+20220_-154+20227del NP_059516.2:n.-154+20220_-154+20227del
NM_017488.3:c.-154+20220_-154+20227del NP_059522.1:n.-154+20220_-154+20227del
XM_011532503.1:c.-272+20220_-272+20227del XP_011530805.1:n.-272+20220_-272+20227del
NM_001617.4:c.-154+20220_-154+20227del MANE Select NP_001608.1:n.-154+20220_-154+20227del
NM_001185055.2:c.14+20220_14+20227del NP_001171984.1:n.14+20220_14+20227del
NM_017482.4:c.-154+20220_-154+20227del NP_059516.2:n.-154+20220_-154+20227del
NM_017488.4:c.-154+20220_-154+20227del NP_059522.1:n.-154+20220_-154+20227del
NM_001185054.2:c.-154+19938_-154+19945del NP_001171983.1:n.-154+19938_-154+19945del