Canonical Allele Identifier: CA2142524461

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64130138_64130147delinsTTGCAAGGCA , CM000676.2:g.64130138_64130147delinsTTGCAAGGCA GRCh38
NC_000014.8:g.64596856_64596865delinsTTGCAAGGCA , CM000676.1:g.64596856_64596865delinsTTGCAAGGCA GRCh37
NC_000014.7:g.63666609_63666618delinsTTGCAAGGCA NCBI36
NG_011756.1:g.282174_282183delinsTTGCAAGGCA
NG_011756.2:g.373240_373249delinsTTGCAAGGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000555002.6:c.14230_14239delinsTTGCAAGGCA (SYNE2) MANE Select ENSP00000450831.2:p.Leu4744=
ENST00000673797.1:c.1633_1642delinsTTGCAAGGCA (SYNE2) ENSP00000501238.1:p.Leu545=
ENST00000344113.8:c.14230_14239delinsTTGCAAGGCA (SYNE2) ENSP00000341781.4:p.Leu4744=
ENST00000357395.7:c.13981_13990delinsTTGCAAGGCA (SYNE2) ENSP00000349969.4:p.Leu4661=
ENST00000358025.7:c.14230_14239delinsTTGCAAGGCA (SYNE2) ENSP00000350719.3:p.Leu4744=
ENST00000394768.6:c.3385_3394delinsTTGCAAGGCA (SYNE2) ENSP00000378249.2:p.Leu1129=
ENST00000554584.5:c.13981_13990delinsTTGCAAGGCA (SYNE2) ENSP00000452570.1:p.Leu4661=
ENST00000555002.5:c.4132_4141delinsTTGCAAGGCA (SYNE2) ENSP00000450831.1:p.Leu1378=
ENST00000556275.5:c.1407-45095_1407-45086delinsTGCCTTGCAA (ESR2) ENSP00000452485.2:n.1407-45095_1407-45086delinsTGCCTTGCAA
NM_015180.4:c.14230_14239delinsTTGCAAGGCA (SYNE2) NP_055995.4:p.Leu4744=
NM_182914.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) NP_878918.2:p.Leu4744=
XM_005267454.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_005267511.1:p.Leu4744=
XM_005267456.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_005267513.1:p.Leu4744=
XM_005267457.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_005267514.1:p.Leu4744=
XM_005267458.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_005267515.1:p.Leu4744=
XM_005267459.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_005267516.1:p.Leu4744=
XM_006720084.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_006720147.1:p.Leu4744=
XM_011536574.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534876.1:p.Leu4744=
XM_011536575.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534877.1:p.Leu4744=
XM_011536576.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534878.1:p.Leu4744=
XM_011536577.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534879.1:p.Leu4744=
XM_011536578.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534880.1:p.Leu4744=
XM_011536579.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534881.1:p.Leu4744=
XM_011536580.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534882.1:p.Leu4744=
XM_011536581.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534883.1:p.Leu4744=
XM_011536582.1:c.14113_14122delinsTTGCAAGGCA (SYNE2) XP_011534884.1:p.Leu4705=
XM_011536583.1:c.11035_11044delinsTTGCAAGGCA (SYNE2) XP_011534885.1:p.Leu3679=
XM_011536575.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534877.1:p.Leu4744=
XM_011536576.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534878.1:p.Leu4744=
XM_011536577.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534879.1:p.Leu4744=
XM_011536580.2:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_011534882.1:p.Leu4744=
XM_017021101.1:c.14230_14239delinsTTGCAAGGCA (SYNE2) XP_016876590.1:p.Leu4744=
XM_017021102.1:c.14161_14170delinsTTGCAAGGCA (SYNE2) XP_016876591.1:p.Leu4721=
XR_001750198.1:n.14460_14469delinsTTGCAAGGCA (SYNE2)
NM_015180.5:c.14230_14239delinsTTGCAAGGCA (SYNE2) NP_055995.4:p.Leu4744=
NM_015180.6:c.14230_14239delinsTTGCAAGGCA (SYNE2) NP_055995.4:p.Leu4744=
NM_182914.3:c.14230_14239delinsTTGCAAGGCA (SYNE2) MANE Select NP_878918.2:p.Leu4744=