Canonical Allele Identifier: CA1337695138

Gene: MLPH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527457_237527461delinsGCTCA , CM000664.2:g.237527457_237527461delinsGCTCA	GRCh38
NC_000002.11:g.238436100_238436104delinsGCTCA , CM000664.1:g.238436100_238436104delinsGCTCA	GRCh37
NC_000002.10:g.238100839_238100843delinsGCTCA	NCBI36
NG_007286.1:g.45171_45175delinsGCTCA , LRG_83:g.45171_45175delinsGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.961_965delinsGCTCA MANE Select	ENSP00000264605.3:p.Ala321=
ENST00000264605.7:c.961_965delinsGCTCA	ENSP00000264605.3:p.Ala321=
ENST00000338530.8:c.961_965delinsGCTCA	ENSP00000341845.4:p.Ala321=
ENST00000409373.5:c.841_845delinsGCTCA	ENSP00000386780.1:p.Ala281=
ENST00000410032.5:c.675+7428_675+7432delinsGCTCA	ENSP00000386338.1:n.675+7428_675+7432delinsGCTCA
ENST00000415753.5:c.23_27delinsGCTCA
ENST00000436965.5:c.207_211delinsGCTCA
ENST00000437893.5:c.300+1652_300+1656delinsGCTCA	ENSP00000412438.1:n.300+1652_300+1656delinsGCTCA
ENST00000464123.5:n.1026_1030delinsGCTCA
ENST00000468178.5:n.1172_1176delinsGCTCA
ENST00000478712.5:n.640_644delinsGCTCA
ENST00000482528.1:n.213_217delinsGCTCA
ENST00000485956.1:n.337_341delinsGCTCA
ENST00000494110.5:n.641_645delinsGCTCA
ENST00000495439.5:n.1338_1342delinsGCTCA
NM_001042467.2:c.961_965delinsGCTCA	NP_001035932.1:p.Ala321=
NM_001281473.1:c.841_845delinsGCTCA	NP_001268402.1:p.Ala281=
NM_001281474.1:c.675+7428_675+7432delinsGCTCA	NP_001268403.1:n.675+7428_675+7432delinsGCTCA
NM_024101.6:c.961_965delinsGCTCA	NP_077006.1:p.Ala321=
NR_104019.1:n.1204_1208delinsGCTCA
XM_006712737.1:c.841_845delinsGCTCA	XP_006712800.1:p.Ala281=
XM_006712739.1:c.961_965delinsGCTCA	XP_006712802.1:p.Ala321=
XM_006712740.1:c.841_845delinsGCTCA	XP_006712803.1:p.Ala281=
XM_011511811.1:c.961_965delinsGCTCA	XP_011510113.1:p.Ala321=
XM_011511812.1:c.526_530delinsGCTCA	XP_011510114.1:p.Ala176=
XR_923025.1:n.1172_1176delinsGCTCA
XM_017004893.1:c.961_965delinsGCTCA	XP_016860382.1:p.Ala321=
XM_017004894.2:c.961_965delinsGCTCA	XP_016860383.1:p.Ala321=
NM_024101.7:c.961_965delinsGCTCA MANE Select	NP_077006.1:p.Ala321=
NM_001042467.3:c.961_965delinsGCTCA	NP_001035932.1:p.Ala321=
NM_001281473.2:c.841_845delinsGCTCA	NP_001268402.1:p.Ala281=
NM_001281474.2:c.675+7428_675+7432delinsGCTCA	NP_001268403.1:n.675+7428_675+7432delinsGCTCA
NR_104019.2:n.1172_1176delinsGCTCA