Canonical Allele Identifier: CA1498567515

Gene: MAML3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139874100_139874103delinsCCTT , CM000666.2:g.139874100_139874103delinsCCTT	GRCh38
NC_000004.11:g.140795254_140795257delinsCCTT , CM000666.1:g.140795254_140795257delinsCCTT	GRCh37
NC_000004.10:g.141014704_141014707delinsCCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502696.1:c.111-143436_111-143433delinsAAGG
ENST00000509479.6:c.2079+15254_2079+15257delinsAAGG MANE Select	ENSP00000421180.1:n.2079+15254_2079+15257delinsAAGG
NM_018717.4:c.2067+15254_2067+15257delinsAAGG	NP_061187.2:n.2067+15254_2067+15257delinsAAGG
NM_018717.5:c.2079+15254_2079+15257delinsAAGG MANE Select	NP_061187.3:n.2079+15254_2079+15257delinsAAGG