Canonical Allele Identifier: CA783295608

Linked Data

ClinVar Variation Id: 1401166
ClinVar RCV Id: RCV001896863
dbSNP Id: rs1171155255

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11576729_11576730insTA , CM000681.2:g.11576729_11576730insTA GRCh38
NC_000019.9:g.11687544_11687545insTA , CM000681.1:g.11687544_11687545insTA GRCh37
NC_000019.8:g.11548544_11548545insTA NCBI36
NG_028127.1:g.7257_7258insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000218758.10:c.375_376insTA (ACP5) ENSP00000218758.4:p.Ile126Ter
ENST00000412435.7:c.375_376insTA (ACP5) ENSP00000392374.1:p.Ile126Ter
ENST00000588524.6:n.881_882insTA (ACP5)
ENST00000588625.2:c.500_501insTA (ACP5) ENSP00000512197.1:n.500_501insTA
ENST00000589792.6:c.375_376insTA (ACP5) ENSP00000468685.2:p.Ile126Ter
ENST00000590832.2:c.375_376insTA (ACP5) ENSP00000465127.2:p.Ile126Ter
ENST00000591319.2:c.375_376insTA (ACP5) ENSP00000464831.2:p.Ile126Ter
ENST00000592659.2:c.375_376insTA (ACP5) ENSP00000465498.2:p.Ile126Ter
ENST00000592828.7:c.375_376insTA (ACP5) ENSP00000468767.3:p.Ile126Ter
ENST00000649386.2:c.375_376insTA (ACP5) ENSP00000497140.2:p.Ile126Ter
ENST00000695791.1:c.375_376insTA (ACP5) ENSP00000512173.1:p.Ile126Ter
ENST00000695809.1:c.372_373insTA (ACP5) ENSP00000512189.1:p.Ile125Ter
ENST00000695810.1:c.311+64_311+65insTA (ACP5) ENSP00000512190.1:n.311+64_311+65insTA
ENST00000695811.1:c.375_376insTA (ACP5) ENSP00000512191.1:p.Ile126Ter
ENST00000695812.1:n.993_994insTA (ACP5)
ENST00000695813.1:c.372_373insTA (ACP5) ENSP00000512192.1:p.Ile125Ter
ENST00000695814.1:c.276_277insTA (ACP5) ENSP00000512193.1:p.Ile93Ter
ENST00000695815.1:c.372_373insTA (ACP5) ENSP00000512194.1:p.Ile125Ter
ENST00000695816.1:n.803_804insTA (ACP5)
ENST00000695817.1:c.372_373insTA (ACP5) ENSP00000512195.1:p.Ile125Ter
ENST00000695818.1:c.262-142_262-141insTA (ACP5) ENSP00000512196.1:n.262-142_262-141insTA
ENST00000695819.1:n.880_881insTA (ACP5)
ENST00000695820.1:c.311+64_311+65insTA (ACP5) ENSP00000512198.1:n.311+64_311+65insTA
ENST00000695821.1:c.311+64_311+65insTA (ACP5) ENSP00000512199.1:n.311+64_311+65insTA
ENST00000695838.1:n.2224_2225insTA (ACP5)
ENST00000648477.1:c.375_376insTA (ACP5) MANE Select ENSP00000496973.1:p.Ile126Ter
ENST00000218758.9:c.375_376insTA (ACP5) ENSP00000218758.4:p.Ile126Ter
ENST00000412435.6:c.375_376insTA (ACP5) ENSP00000392374.1:p.Ile126Ter
ENST00000433365.2:c.375_376insTA (ACP5) ENSP00000413456.1:p.Ile126Ter
ENST00000585493.5:c.-94+1376_-94+1377insTA (ZNF627) ENSP00000464997.1:n.-94+1376_-94+1377insTA
ENST00000588524.5:n.881_882insTA (ACP5)
ENST00000588625.1:n.214_215insTA (ACP5)
ENST00000590420.1:c.54+534_54+535insTA (ACP5) ENSP00000468509.1:n.54+534_54+535insTA
ENST00000592828.5:c.375_376insTA (ACP5) ENSP00000468767.1:p.Ile126Ter
ENST00000593279.5:n.519+1376_519+1377insTA (ZNF627)
NM_001111034.1:c.375_376insTA (ACP5) NP_001104504.1:p.Ile126Ter
NM_001111035.1:c.375_376insTA (ACP5) NP_001104505.1:p.Ile126Ter
NM_001111036.1:c.375_376insTA (ACP5) NP_001104506.1:p.Ile126Ter
NM_001611.3:c.375_376insTA (ACP5) NP_001602.1:p.Ile126Ter
XM_005259938.1:c.375_376insTA (ACP5) XP_005259995.1:p.Ile126Ter
XM_005259939.3:c.375_376insTA (ACP5) XP_005259996.1:p.Ile126Ter
XM_011527780.1:c.-94+1376_-94+1377insTA (ZNF627) XP_011526082.1:n.-94+1376_-94+1377insTA
XM_011528069.1:c.375_376insTA (ACP5) XP_011526371.1:p.Ile126Ter
NM_001111034.2:c.375_376insTA (ACP5) NP_001104504.1:p.Ile126Ter
NM_001111035.2:c.375_376insTA (ACP5) NP_001104505.1:p.Ile126Ter
NM_001111036.2:c.375_376insTA (ACP5) NP_001104506.1:p.Ile126Ter
NM_001322023.1:c.375_376insTA (ACP5) NP_001308952.1:p.Ile126Ter
NM_001611.5:c.375_376insTA (ACP5) MANE Select NP_001602.1:p.Ile126Ter
XM_011527780.2:c.-94+1376_-94+1377insTA (ZNF627) XP_011526082.1:n.-94+1376_-94+1377insTA
XM_011528069.2:c.375_376insTA (ACP5) XP_011526371.1:p.Ile126Ter
NM_001111034.3:c.375_376insTA (ACP5) NP_001104504.1:p.Ile126Ter
NM_001111035.3:c.375_376insTA (ACP5) NP_001104505.1:p.Ile126Ter
NM_001111036.3:c.375_376insTA (ACP5) NP_001104506.1:p.Ile126Ter
NM_001322023.2:c.375_376insTA (ACP5) NP_001308952.1:p.Ile126Ter