Canonical Allele Identifier: CA1330516097
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222231877_222231878delinsGA , CM000664.2:g.222231877_222231878delinsGA GRCh38
NC_000002.11:g.223096596_223096597delinsGA , CM000664.1:g.223096596_223096597delinsGA GRCh37
NC_000002.10:g.222804840_222804841delinsGA NCBI36
NG_011632.1:g.72104_72105delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.792+200_792+201delinsTC ENSP00000338767.5:n.792+200_792+201delinsTC
ENST00000344493.9:c.792+200_792+201delinsTC ENSP00000342092.4:n.792+200_792+201delinsTC
ENST00000350526.9:c.792+200_792+201delinsTC ENSP00000343052.4:n.792+200_792+201delinsTC
ENST00000392070.7:c.792+200_792+201delinsTC MANE Select ENSP00000375922.3:n.792+200_792+201delinsTC
ENST00000646154.1:n.606+200_606+201delinsTC
ENST00000336840.10:c.792+200_792+201delinsTC ENSP00000338767.5:n.792+200_792+201delinsTC
ENST00000344493.8:c.792+200_792+201delinsTC ENSP00000342092.4:n.792+200_792+201delinsTC
ENST00000350526.8:c.792+200_792+201delinsTC ENSP00000343052.4:n.792+200_792+201delinsTC
ENST00000392069.6:c.792+200_792+201delinsTC ENSP00000375921.2:n.792+200_792+201delinsTC
ENST00000392070.6:c.792+200_792+201delinsTC ENSP00000375922.2:n.792+200_792+201delinsTC
ENST00000409551.7:c.789+200_789+201delinsTC ENSP00000386750.3:n.789+200_789+201delinsTC
NM_001127366.2:c.789+200_789+201delinsTC NP_001120838.1:n.789+200_789+201delinsTC
NM_181457.3:c.792+200_792+201delinsTC NP_852122.1:n.792+200_792+201delinsTC
NM_181458.3:c.792+200_792+201delinsTC NP_852123.1:n.792+200_792+201delinsTC
NM_181459.3:c.792+200_792+201delinsTC NP_852124.1:n.792+200_792+201delinsTC
NM_181460.3:c.792+200_792+201delinsTC NP_852125.1:n.792+200_792+201delinsTC
NM_181461.3:c.792+200_792+201delinsTC NP_852126.1:n.792+200_792+201delinsTC
XM_011511278.1:c.936+200_936+201delinsTC XP_011509580.1:n.936+200_936+201delinsTC
XM_011511279.1:c.228+200_228+201delinsTC XP_011509581.1:n.228+200_228+201delinsTC
XR_923945.1:n.287+9907_287+9908delinsGA
XR_923946.1:n.288-135_288-134delinsGA
NM_001127366.3:c.789+200_789+201delinsTC NP_001120838.1:n.789+200_789+201delinsTC
NM_181457.4:c.792+200_792+201delinsTC NP_852122.1:n.792+200_792+201delinsTC
NM_181458.4:c.792+200_792+201delinsTC MANE Select NP_852123.1:n.792+200_792+201delinsTC
NM_181459.4:c.792+200_792+201delinsTC NP_852124.1:n.792+200_792+201delinsTC
NM_181460.4:c.792+200_792+201delinsTC NP_852125.1:n.792+200_792+201delinsTC
NM_181461.4:c.792+200_792+201delinsTC NP_852126.1:n.792+200_792+201delinsTC