Canonical Allele Identifier: CA2142586100

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64226205_64226217delinsAGCTGGAGCTTTT , CM000676.2:g.64226205_64226217delinsAGCTGGAGCTTTT GRCh38
NC_000014.8:g.64692923_64692935delinsAGCTGGAGCTTTT , CM000676.1:g.64692923_64692935delinsAGCTGGAGCTTTT GRCh37
NC_000014.7:g.63762676_63762688delinsAGCTGGAGCTTTT NCBI36
NG_011535.1:g.117334_117346delinsAAAAGCTCCAGCT
NG_011756.1:g.378241_378253delinsAGCTGGAGCTTTT
NG_011756.2:g.469307_469319delinsAGCTGGAGCTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000554805.6:n.3256_3268delinsAGCTGGAGCTTTT (SYNE2)
ENST00000555002.6:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) MANE Select ENSP00000450831.2:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000344113.8:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000341781.4:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000357395.7:c.*641_*653delinsAGCTGGAGCTTTT (SYNE2) ENSP00000349969.4:n.*641_*653delinsAGCTGGAGCTTTT
ENST00000358025.7:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000350719.3:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000394768.6:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000378249.2:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000441438.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000396794.2:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000458046.6:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000391937.2:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000553289.5:c.*3212_*3224delinsAGCTGGAGCTTTT (SYNE2) ENSP00000451184.1:n.*3212_*3224delinsAGCTGGAGCTTTT
ENST00000554805.5:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000450605.1:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000555002.5:c.11305_11317delinsAGCTGGAGCTTTT (SYNE2) ENSP00000450831.1:n.11305_11317delinsAGCTGGAGCTTTT
ENST00000555022.5:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) ENSP00000451009.1:n.*679_*691delinsAGCTGGAGCTTTT
ENST00000555612.5:c.*3158_*3170delinsAGCTGGAGCTTTT (SYNE2) ENSP00000451972.1:n.*3158_*3170delinsAGCTGGAGCTTTT
ENST00000556275.5:c.1406+8753_1406+8765delinsAAAAGCTCCAGCT (ESR2) ENSP00000452485.2:n.1406+8753_1406+8765delinsAAAAGCTCCAGCT
NM_015180.4:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_055995.4:n.*679_*691delinsAGCTGGAGCTTTT
NM_182910.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_878914.1:n.*679_*691delinsAGCTGGAGCTTTT
NM_182913.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_878917.1:n.*679_*691delinsAGCTGGAGCTTTT
NM_182914.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_878918.2:n.*679_*691delinsAGCTGGAGCTTTT
XM_005267454.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_005267511.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_005267456.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_005267513.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_005267457.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_005267514.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_005267458.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_005267515.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_005267459.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_005267516.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536545.1:c.1406+8753_1406+8765delinsAAAAGCTCCAGCT (ESR2) XP_011534847.1:n.1406+8753_1406+8765delinsAAAAGCTCCAGCT
XM_011536574.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534876.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536575.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534877.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536576.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534878.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536577.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534879.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536578.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534880.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536579.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534881.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536580.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534882.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536581.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534883.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536582.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534884.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536583.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534885.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536575.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534877.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536576.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534878.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536577.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534879.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_011536580.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_011534882.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_017021101.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_016876590.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_017021102.1:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_016876591.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_017021103.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_016876592.1:n.*679_*691delinsAGCTGGAGCTTTT
XM_017021104.2:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) XP_016876593.1:n.*679_*691delinsAGCTGGAGCTTTT
NM_015180.5:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_055995.4:n.*679_*691delinsAGCTGGAGCTTTT
NM_182913.3:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_878917.1:n.*679_*691delinsAGCTGGAGCTTTT
NM_015180.6:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_055995.4:n.*679_*691delinsAGCTGGAGCTTTT
NM_182913.4:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) NP_878917.1:n.*679_*691delinsAGCTGGAGCTTTT
NM_182914.3:c.*679_*691delinsAGCTGGAGCTTTT (SYNE2) MANE Select NP_878918.2:n.*679_*691delinsAGCTGGAGCTTTT