Canonical Allele Identifier: CA783294681

Linked Data

dbSNP Id: rs1300032027

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11576177_11576180del , CM000681.2:g.11576177_11576180del GRCh38
NC_000019.9:g.11686992_11686995del , CM000681.1:g.11686992_11686995del GRCh37
NC_000019.8:g.11547992_11547995del NCBI36
NG_028127.1:g.7807_7810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218758.10:c.735+63_735+66del (ACP5) ENSP00000218758.4:n.735+63_735+66del
ENST00000412435.7:c.735+63_735+66del (ACP5) ENSP00000392374.1:n.735+63_735+66del
ENST00000588524.6:n.1368+63_1368+66del (ACP5)
ENST00000589792.6:c.735+63_735+66del (ACP5) ENSP00000468685.2:n.735+63_735+66del
ENST00000590832.2:c.735+63_735+66del (ACP5) ENSP00000465127.2:n.735+63_735+66del
ENST00000591319.2:c.735+63_735+66del (ACP5) ENSP00000464831.2:n.735+63_735+66del
ENST00000592659.2:c.735+63_735+66del (ACP5) ENSP00000465498.2:n.735+63_735+66del
ENST00000592828.7:c.735+63_735+66del (ACP5) ENSP00000468767.3:n.735+63_735+66del
ENST00000649386.2:c.735+63_735+66del (ACP5) ENSP00000497140.2:n.735+63_735+66del
ENST00000695791.1:c.735+63_735+66del (ACP5) ENSP00000512173.1:n.735+63_735+66del
ENST00000695809.1:c.732+63_732+66del (ACP5) ENSP00000512189.1:n.732+63_732+66del
ENST00000695810.1:c.657+63_657+66del (ACP5) ENSP00000512190.1:n.657+63_657+66del
ENST00000695811.1:c.735+63_735+66del (ACP5) ENSP00000512191.1:n.735+63_735+66del
ENST00000695812.1:n.1353+63_1353+66del (ACP5)
ENST00000695813.1:c.732+63_732+66del (ACP5) ENSP00000512192.1:n.732+63_732+66del
ENST00000695814.1:c.636+63_636+66del (ACP5) ENSP00000512193.1:n.636+63_636+66del
ENST00000695815.1:c.732+63_732+66del (ACP5) ENSP00000512194.1:n.732+63_732+66del
ENST00000695816.1:n.1290+63_1290+66del (ACP5)
ENST00000695817.1:c.732+63_732+66del (ACP5) ENSP00000512195.1:n.732+63_732+66del
ENST00000695818.1:c.*238+63_*238+66del (ACP5) ENSP00000512196.1:n.*238+63_*238+66del
ENST00000695819.1:n.1240+63_1240+66del (ACP5)
ENST00000695820.1:c.657+63_657+66del (ACP5) ENSP00000512198.1:n.657+63_657+66del
ENST00000695821.1:c.657+63_657+66del (ACP5) ENSP00000512199.1:n.657+63_657+66del
ENST00000695838.1:n.2711+63_2711+66del (ACP5)
ENST00000648477.1:c.735+63_735+66del (ACP5) MANE Select ENSP00000496973.1:n.735+63_735+66del
ENST00000218758.9:c.735+63_735+66del (ACP5) ENSP00000218758.4:n.735+63_735+66del
ENST00000412435.6:c.735+63_735+66del (ACP5) ENSP00000392374.1:n.735+63_735+66del
ENST00000433365.2:c.735+63_735+66del (ACP5) ENSP00000413456.1:n.735+63_735+66del
ENST00000585493.5:c.-94+824_-94+827del (ZNF627) ENSP00000464997.1:n.-94+824_-94+827del
ENST00000590420.1:c.55-974_55-971del (ACP5) ENSP00000468509.1:n.55-974_55-971del
ENST00000592828.5:c.735+63_735+66del (ACP5) ENSP00000468767.1:n.735+63_735+66del
ENST00000593279.5:n.519+824_519+827del (ZNF627)
NM_001111034.1:c.735+63_735+66del (ACP5) NP_001104504.1:n.735+63_735+66del
NM_001111035.1:c.735+63_735+66del (ACP5) NP_001104505.1:n.735+63_735+66del
NM_001111036.1:c.735+63_735+66del (ACP5) NP_001104506.1:n.735+63_735+66del
NM_001611.3:c.735+63_735+66del (ACP5) NP_001602.1:n.735+63_735+66del
XM_005259938.1:c.735+63_735+66del (ACP5) XP_005259995.1:n.735+63_735+66del
XM_005259939.3:c.735+63_735+66del (ACP5) XP_005259996.1:n.735+63_735+66del
XM_011527780.1:c.-94+824_-94+827del (ZNF627) XP_011526082.1:n.-94+824_-94+827del
XM_011528069.1:c.735+63_735+66del (ACP5) XP_011526371.1:n.735+63_735+66del
NM_001111034.2:c.735+63_735+66del (ACP5) NP_001104504.1:n.735+63_735+66del
NM_001111035.2:c.735+63_735+66del (ACP5) NP_001104505.1:n.735+63_735+66del
NM_001111036.2:c.735+63_735+66del (ACP5) NP_001104506.1:n.735+63_735+66del
NM_001322023.1:c.735+63_735+66del (ACP5) NP_001308952.1:n.735+63_735+66del
NM_001611.5:c.735+63_735+66del (ACP5) MANE Select NP_001602.1:n.735+63_735+66del
XM_011527780.2:c.-94+824_-94+827del (ZNF627) XP_011526082.1:n.-94+824_-94+827del
XM_011528069.2:c.735+63_735+66del (ACP5) XP_011526371.1:n.735+63_735+66del
NM_001111034.3:c.735+63_735+66del (ACP5) NP_001104504.1:n.735+63_735+66del
NM_001111035.3:c.735+63_735+66del (ACP5) NP_001104505.1:n.735+63_735+66del
NM_001111036.3:c.735+63_735+66del (ACP5) NP_001104506.1:n.735+63_735+66del
NM_001322023.2:c.735+63_735+66del (ACP5) NP_001308952.1:n.735+63_735+66del