Canonical Allele Identifier: CA2839049530

Gene: MLPH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527448dup , CM000664.2:g.237527448dup	GRCh38
NC_000002.11:g.238436091dup , CM000664.1:g.238436091dup	GRCh37
NC_000002.10:g.238100830dup	NCBI36
NG_007286.1:g.45162dup , LRG_83:g.45162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.952dup MANE Select	ENSP00000264605.3:p.Ser318LysfsTer21
ENST00000264605.7:c.952dup	ENSP00000264605.3:p.Ser318LysfsTer21
ENST00000338530.8:c.952dup	ENSP00000341845.4:p.Ser318LysfsTer21
ENST00000409373.5:c.832dup	ENSP00000386780.1:p.Ser278LysfsTer21
ENST00000410032.5:c.675+7419dup	ENSP00000386338.1:n.675+7419dup
ENST00000415753.5:c.14dup
ENST00000436965.5:c.198dup
ENST00000437893.5:c.300+1643dup	ENSP00000412438.1:n.300+1643dup
ENST00000464123.5:n.1017dup
ENST00000468178.5:n.1163dup
ENST00000478712.5:n.631dup
ENST00000482528.1:n.204dup
ENST00000485956.1:n.328dup
ENST00000494110.5:n.632dup
ENST00000495439.5:n.1329dup
NM_001042467.2:c.952dup	NP_001035932.1:p.Ser318LysfsTer21
NM_001281473.1:c.832dup	NP_001268402.1:p.Ser278LysfsTer21
NM_001281474.1:c.675+7419dup	NP_001268403.1:n.675+7419dup
NM_024101.6:c.952dup	NP_077006.1:p.Ser318LysfsTer21
NR_104019.1:n.1195dup
XM_006712737.1:c.832dup	XP_006712800.1:p.Ser278LysfsTer21
XM_006712739.1:c.952dup	XP_006712802.1:p.Ser318LysfsTer21
XM_006712740.1:c.832dup	XP_006712803.1:p.Ser278LysfsTer21
XM_011511811.1:c.952dup	XP_011510113.1:p.Ser318LysfsTer21
XM_011511812.1:c.517dup	XP_011510114.1:p.Ser173LysfsTer21
XR_923025.1:n.1163dup
XM_017004893.1:c.952dup	XP_016860382.1:p.Ser318LysfsTer21
XM_017004894.2:c.952dup	XP_016860383.1:p.Ser318LysfsTer21
NM_024101.7:c.952dup MANE Select	NP_077006.1:p.Ser318LysfsTer21
NM_001042467.3:c.952dup	NP_001035932.1:p.Ser318LysfsTer21
NM_001281473.2:c.832dup	NP_001268402.1:p.Ser278LysfsTer21
NM_001281474.2:c.675+7419dup	NP_001268403.1:n.675+7419dup
NR_104019.2:n.1163dup