Canonical Allele Identifier: CA248998

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654922_80654930dup , CM000667.2:g.80654922_80654930dup GRCh38
NC_000005.9:g.79950741_79950749dup , CM000667.1:g.79950741_79950749dup GRCh37
NC_000005.8:g.79986497_79986505dup NCBI36
NG_016607.1:g.5448_5456dup
NG_023304.1:g.5065_5073dup
NG_016607.2:g.5448_5456dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.195_203dup (MSH3) MANE Select ENSP00000265081.6:p.Ala68_Pro69insProProAla
ENST00000439211.7:c.-428_-420dup (DHFR) MANE Select ENSP00000396308.2:n.-428_-420dup
ENST00000667069.1:c.195_203dup (MSH3) ENSP00000499502.1:p.Ala68_Pro69insProProAla
ENST00000670357.1:c.195_203dup (MSH3) ENSP00000499791.1:p.Ala68_Pro69insProProAla
ENST00000265081.6:c.195_203dup (MSH3) ENSP00000265081.6:p.Ala68_Pro69insProProAla
ENST00000439211.6:c.-428_-420dup (DHFR) ENSP00000396308.2:n.-428_-420dup
NM_000791.3:c.-428_-420dup (DHFR) NP_000782.1:n.-428_-420dup
NM_001290354.1:c.-534_-526dup (DHFR) NP_001277283.1:n.-534_-526dup
NM_001290357.1:c.-428_-420dup (DHFR) NP_001277286.1:n.-428_-420dup
NM_002439.4:c.195_203dup (MSH3) NP_002430.3:p.Ala68_Pro69insProProAla
NR_110936.1:n.65_73dup (DHFR)
NM_000791.4:c.-428_-420dup (DHFR) MANE Select NP_000782.1:n.-428_-420dup
NM_002439.5:c.195_203dup (MSH3) MANE Select NP_002430.3:p.Ala68_Pro69insProProAla
NM_001290354.2:c.-534_-526dup (DHFR) NP_001277283.1:n.-534_-526dup
NM_001290357.2:c.-428_-420dup (DHFR) NP_001277286.1:n.-428_-420dup
NR_110936.2:n.67_75dup (DHFR)