Canonical Allele Identifier: CA2249873213

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16029321_16029324delinsAAGG , CM000679.2:g.16029321_16029324delinsAAGG GRCh38
NC_000017.10:g.15932635_15932638delinsAAGG , CM000679.1:g.15932635_15932638delinsAAGG GRCh37
NC_000017.9:g.15873360_15873363delinsAAGG NCBI36
NG_029806.1:g.34942_34945delinsAAGG
NG_047111.1:g.192423_192426delinsCCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000436068.2:c.*2972_*2975delinsCCTT (NCOR1) ENSP00000389839.2:n.*2972_*2975delinsCCTT
ENST00000704743.1:n.9243_9246delinsCCTT (NCOR1)
ENST00000704744.1:c.*2972_*2975delinsCCTT (NCOR1) ENSP00000516021.1:n.*2972_*2975delinsCCTT
ENST00000704745.1:c.*2972_*2975delinsCCTT (NCOR1) ENSP00000516022.1:n.*2972_*2975delinsCCTT
ENST00000261647.10:c.*1799_*1802delinsAAGG (TTC19) MANE Select ENSP00000261647.5:n.*1799_*1802delinsAAGG
ENST00000268712.8:c.*2972_*2975delinsCCTT (NCOR1) MANE Select ENSP00000268712.2:n.*2972_*2975delinsCCTT
ENST00000268712.7:c.*2972_*2975delinsCCTT (NCOR1) ENSP00000268712.2:n.*2972_*2975delinsCCTT
ENST00000470649.1:c.247+2619_247+2622delinsAAGG (TTC19) ENSP00000465627.1:n.247+2619_247+2622delinsAAGG
NM_001271420.1:c.*1799_*1802delinsAAGG (TTC19) NP_001258349.1:n.*1799_*1802delinsAAGG
NM_017775.3:c.*1799_*1802delinsAAGG (TTC19) NP_060245.3:n.*1799_*1802delinsAAGG
XM_017024801.2:c.994+2619_994+2622delinsAAGG (TTC19) XP_016880290.2:n.994+2619_994+2622delinsAAGG
XM_017024802.2:c.994+2619_994+2622delinsAAGG (TTC19) XP_016880291.2:n.994+2619_994+2622delinsAAGG
NM_006311.4:c.*2972_*2975delinsCCTT (NCOR1) MANE Select NP_006302.2:n.*2972_*2975delinsCCTT
NM_017775.4:c.*1799_*1802delinsAAGG (TTC19) MANE Select NP_060245.3:n.*1799_*1802delinsAAGG
NM_001271420.2:c.*1799_*1802delinsAAGG (TTC19) NP_001258349.1:n.*1799_*1802delinsAAGG