Canonical Allele Identifier: CA2838455926

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19435357dup , CM000684.2:g.19435357dup GRCh38
NC_000022.10:g.19422880dup , CM000684.1:g.19422880dup GRCh37
NC_000022.9:g.17802880dup NCBI36
NG_009231.1:g.1343dup
NG_009231.2:g.1343dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000333130.4:c.297-281dup (MRPL40) MANE Select ENSP00000333401.3:n.297-281dup
ENST00000333130.3:c.297-281dup (MRPL40) ENSP00000333401.3:n.297-281dup
ENST00000443660.5:n.525-281dup (MRPL40)
ENST00000452818.1:c.73+12024dup (HIRA)
ENST00000471259.1:n.570-281dup (MRPL40)
ENST00000509549.5:c.192+12024dup (C22orf39) ENSP00000424903.1:n.192+12024dup
NM_003776.2:c.297-281dup (MRPL40) NP_003767.2:n.297-281dup
XM_005261267.2:c.165-281dup (MRPL40) XP_005261324.1:n.165-281dup
NM_001318151.1:c.165-281dup (MRPL40) NP_001305080.1:n.165-281dup
NM_001318152.1:c.165-281dup (MRPL40) NP_001305081.1:n.165-281dup
NM_003776.3:c.297-281dup (MRPL40) NP_003767.2:n.297-281dup
NM_001318151.2:c.165-281dup (MRPL40) NP_001305080.1:n.165-281dup
NM_003776.4:c.297-281dup (MRPL40) MANE Select NP_003767.2:n.297-281dup