Canonical Allele Identifier: CA1993253454

Gene: MAML2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96258994_96258995delinsAT , CM000673.2:g.96258994_96258995delinsAT	GRCh38
NC_000011.9:g.95992158_95992159delinsAT , CM000673.1:g.95992158_95992159delinsAT	GRCh37
NC_000011.8:g.95631806_95631807delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524717.6:c.513+82388_513+82389delinsAT MANE Select	ENSP00000434552.1:n.513+82388_513+82389delinsAT
ENST00000524717.5:c.513+82388_513+82389delinsAT	ENSP00000434552.1:n.513+82388_513+82389delinsAT
NM_032427.3:c.513+82388_513+82389delinsAT	NP_115803.1:n.513+82388_513+82389delinsAT
XM_011543024.1:c.-172+83913_-172+83914delinsAT	XP_011541326.1:n.-172+83913_-172+83914delinsAT
XM_011543025.1:c.513+82388_513+82389delinsAT	XP_011541327.1:n.513+82388_513+82389delinsAT
XM_011543024.3:c.-172+83913_-172+83914delinsAT	XP_011541326.1:n.-172+83913_-172+83914delinsAT
XM_011543025.2:c.513+82388_513+82389delinsAT	XP_011541327.1:n.513+82388_513+82389delinsAT
NM_032427.4:c.513+82388_513+82389delinsAT MANE Select	NP_115803.1:n.513+82388_513+82389delinsAT