Canonical Allele Identifier: CA790723279
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168878143_168878145del , CM000666.2:g.168878143_168878145del GRCh38
NC_000004.11:g.169799294_169799296del , CM000666.1:g.169799294_169799296del GRCh37
NC_000004.10:g.170035869_170035871del NCBI36
NG_013376.1:g.386078_386080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704822.1:c.-157-12779_-157-12777del (PALLD) ENSP00000516055.1:n.-157-12779_-157-12777del
ENST00000505667.6:c.1965-12779_1965-12777del (PALLD) MANE Select ENSP00000425556.1:n.1965-12779_1965-12777del
ENST00000507735.6:c.252_254del (PALLD) ENSP00000424016.1:p.Ser85del
ENST00000649826.1:c.764_766del (PALLD)
ENST00000261509.10:c.1965-12779_1965-12777del (PALLD) ENSP00000261509.6:n.1965-12779_1965-12777del
ENST00000393726.7:c.-157-12779_-157-12777del (PALLD) ENSP00000377327.3:n.-157-12779_-157-12777del
ENST00000505667.5:c.1965-12779_1965-12777del (PALLD) ENSP00000425556.1:n.1965-12779_1965-12777del
ENST00000507735.5:c.252_254del (PALLD) ENSP00000424016.1:p.Ser85del
ENST00000509108.1:n.366-14166_366-14164del (CBR4)
ENST00000510042.5:c.*455-13553_*455-13551del (CBR4) ENSP00000424717.1:n.*455-13553_*455-13551del
ENST00000510998.5:c.-157-12779_-157-12777del (PALLD) ENSP00000422135.1:n.-157-12779_-157-12777del
ENST00000512127.5:c.819-12779_819-12777del (PALLD) ENSP00000426947.1:n.819-12779_819-12777del
NM_001166108.1:c.1965-12779_1965-12777del (PALLD) NP_001159580.1:n.1965-12779_1965-12777del
NM_001166109.1:c.819-12779_819-12777del (PALLD) NP_001159581.1:n.819-12779_819-12777del
NM_001166110.1:c.252_254del (PALLD) NP_001159582.1:p.Ser85del
NM_016081.3:c.1965-12779_1965-12777del (PALLD) NP_057165.3:n.1965-12779_1965-12777del
XM_005262861.3:c.2385_2387del (PALLD) XP_005262918.1:p.Ser796del
XM_005262866.2:c.1239_1241del (PALLD) XP_005262923.1:p.Ser414del
XM_011531768.1:c.2589_2591del (PALLD) XP_011530070.1:p.Ser864del
XM_011531769.1:c.2589_2591del (PALLD) XP_011530071.1:p.Ser864del
XM_011531770.1:c.2589_2591del (PALLD) XP_011530072.1:p.Ser864del
XM_011531771.1:c.2589_2591del (PALLD) XP_011530073.1:p.Ser864del
XM_011531772.1:c.2589_2591del (PALLD) XP_011530074.1:p.Ser864del
XM_011531773.1:c.2169-12779_2169-12777del (PALLD) XP_011530075.1:n.2169-12779_2169-12777del
XM_011531774.1:c.2169-12779_2169-12777del (PALLD) XP_011530076.1:n.2169-12779_2169-12777del
XM_011531775.1:c.1239_1241del (PALLD) XP_011530077.1:p.Ser414del
XM_011531776.1:c.1239_1241del (PALLD) XP_011530078.1:p.Ser414del
XM_005262861.4:c.2385_2387del (PALLD) XP_005262918.1:p.Ser796del
XM_011531768.2:c.2589_2591del (PALLD) XP_011530070.1:p.Ser864del
XM_011531769.2:c.2589_2591del (PALLD) XP_011530071.1:p.Ser864del
XM_011531770.2:c.2589_2591del (PALLD) XP_011530072.1:p.Ser864del
XM_011531771.2:c.2589_2591del (PALLD) XP_011530073.1:p.Ser864del
XM_011531772.2:c.2589_2591del (PALLD) XP_011530074.1:p.Ser864del
XM_017007910.1:c.2589_2591del (PALLD) XP_016863399.1:p.Ser864del
XM_024453939.1:c.1239_1241del (PALLD) XP_024309707.1:p.Ser414del
XM_024453940.1:c.252_254del (PALLD) XP_024309708.1:p.Ser85del
NM_001166108.2:c.1965-12779_1965-12777del (PALLD) MANE Select NP_001159580.1:n.1965-12779_1965-12777del
NM_001367567.1:c.-157-12779_-157-12777del (PALLD) NP_001354496.1:n.-157-12779_-157-12777del
NM_001367568.1:c.-157-12779_-157-12777del (PALLD) NP_001354497.1:n.-157-12779_-157-12777del
NM_001367569.1:c.-157-12779_-157-12777del (PALLD) NP_001354498.1:n.-157-12779_-157-12777del
NM_001367570.1:c.-157-12779_-157-12777del (PALLD) NP_001354499.1:n.-157-12779_-157-12777del
NM_001166109.2:c.819-12779_819-12777del (PALLD) NP_001159581.1:n.819-12779_819-12777del
NM_001166110.2:c.252_254del (PALLD) NP_001159582.1:p.Ser85del
NM_016081.4:c.1965-12779_1965-12777del (PALLD) NP_057165.3:n.1965-12779_1965-12777del