Canonical Allele Identifier: CA2517014128

Gene: PABPC4L

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200472_134200473insCCAAGATTATTCCTCTAATAA , CM000666.2:g.134200472_134200473insCCAAGATTATTCCTCTAATAA	GRCh38
NC_000004.11:g.135121627_135121628insCCAAGATTATTCCTCTAATAA , CM000666.1:g.135121627_135121628insCCAAGATTATTCCTCTAATAA	GRCh37
NC_000004.10:g.135341077_135341078insCCAAGATTATTCCTCTAATAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.547_548insTTATTAGAGGAATAATCTTGG MANE Select	ENSP00000463233.1:p.Arg183delinsIleIleArgGlyIleIleLeuGly
ENST00000421491.3:c.547_548insTTATTAGAGGAATAATCTTGG	ENSP00000463233.1:p.Arg183delinsIleIleArgGlyIleIleLeuGly
NM_001114734.1:c.721_722insTTATTAGAGGAATAATCTTGG	NP_001108206.2:p.Arg241delinsIleIleArgGlyIleIleLeuGly
NM_001114734.2:c.547_548insTTATTAGAGGAATAATCTTGG MANE Select	NP_001108206.3:p.Arg183delinsIleIleArgGlyIleIleLeuGly
NM_001363585.1:c.547_548insTTATTAGAGGAATAATCTTGG	NP_001350514.1:p.Arg183delinsIleIleArgGlyIleIleLeuGly
XR_001741133.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741134.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741135.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741136.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741137.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741138.1:n.1086_1087insTTATTAGAGGAATAATCTTGG
XR_001741139.1:n.1081_1082insTTATTAGAGGAATAATCTTGG