Canonical Allele Identifier: CA1947947697

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999228_1999229delinsAG , CM000673.2:g.1999228_1999229delinsAG GRCh38
NC_000011.9:g.2020458_2020459delinsAG , CM000673.1:g.2020458_2020459delinsAG GRCh37
NC_000011.8:g.1977034_1977035delinsAG NCBI36
NG_016165.1:g.3607_3608delinsCT

Transcript Alleles

HGVS Amino-acid Change
NR_131224.1:n.249+1989_249+1990delinsCT (H19)
XM_011520273.1:c.498-12313_498-12312delinsAG (MRPL23) XP_011518575.1:n.498-12313_498-12312delinsAG
XM_011520274.1:c.492-12313_492-12312delinsAG (MRPL23) XP_011518576.1:n.492-12313_492-12312delinsAG
XM_011520275.1:c.498-12313_498-12312delinsAG (MRPL23) XP_011518577.1:n.498-12313_498-12312delinsAG
XM_011520275.2:c.498-12313_498-12312delinsAG (MRPL23) XP_011518577.1:n.498-12313_498-12312delinsAG
NM_001400176.1:c.498-12313_498-12312delinsAG (MRPL23) NP_001387105.1:n.498-12313_498-12312delinsAG