Canonical Allele Identifier: CA766628829

Gene: MLPH

Linked Data

• dbSNP Id: rs1226290494
• gnomAD v3: 2-237527273-TGTC-T
• gnomAD v4: 2-237527273-TGTC-T
• MyVariant Identifiers: chr2:g.238435917_238435919del (hg19) ; chr2:g.237527274_237527276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527274_237527276del , CM000664.2:g.237527274_237527276del	GRCh38
NC_000002.11:g.238435917_238435919del , CM000664.1:g.238435917_238435919del	GRCh37
NC_000002.10:g.238100656_238100658del	NCBI36
NG_007286.1:g.44988_44990del , LRG_83:g.44988_44990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.881-103_881-101del MANE Select	ENSP00000264605.3:n.881-103_881-101del
ENST00000264605.7:c.881-103_881-101del	ENSP00000264605.3:n.881-103_881-101del
ENST00000338530.8:c.881-103_881-101del	ENSP00000341845.4:n.881-103_881-101del
ENST00000409373.5:c.761-103_761-101del	ENSP00000386780.1:n.761-103_761-101del
ENST00000410032.5:c.675+7245_675+7247del	ENSP00000386338.1:n.675+7245_675+7247del
ENST00000436965.5:c.79-55_79-53del
ENST00000437893.5:c.300+1469_300+1471del	ENSP00000412438.1:n.300+1469_300+1471del
ENST00000464123.5:n.946-103_946-101del
ENST00000468178.5:n.1092-103_1092-101del
ENST00000478712.5:n.560-103_560-101del
ENST00000482528.1:n.133-103_133-101del
ENST00000485956.1:n.257-103_257-101del
ENST00000494110.5:n.561-103_561-101del
ENST00000495439.5:n.1258-103_1258-101del
NM_001042467.2:c.881-103_881-101del	NP_001035932.1:n.881-103_881-101del
NM_001281473.1:c.761-103_761-101del	NP_001268402.1:n.761-103_761-101del
NM_001281474.1:c.675+7245_675+7247del	NP_001268403.1:n.675+7245_675+7247del
NM_024101.6:c.881-103_881-101del	NP_077006.1:n.881-103_881-101del
NR_104019.1:n.1124-103_1124-101del
XM_006712737.1:c.761-103_761-101del	XP_006712800.1:n.761-103_761-101del
XM_006712739.1:c.881-103_881-101del	XP_006712802.1:n.881-103_881-101del
XM_006712740.1:c.761-103_761-101del	XP_006712803.1:n.761-103_761-101del
XM_011511811.1:c.881-103_881-101del	XP_011510113.1:n.881-103_881-101del
XM_011511812.1:c.446-103_446-101del	XP_011510114.1:n.446-103_446-101del
XR_923025.1:n.1092-103_1092-101del
XM_017004893.1:c.881-103_881-101del	XP_016860382.1:n.881-103_881-101del
XM_017004894.2:c.881-103_881-101del	XP_016860383.1:n.881-103_881-101del
NM_024101.7:c.881-103_881-101del MANE Select	NP_077006.1:n.881-103_881-101del
NM_001042467.3:c.881-103_881-101del	NP_001035932.1:n.881-103_881-101del
NM_001281473.2:c.761-103_761-101del	NP_001268402.1:n.761-103_761-101del
NM_001281474.2:c.675+7245_675+7247del	NP_001268403.1:n.675+7245_675+7247del
NR_104019.2:n.1092-103_1092-101del