Canonical Allele Identifier: CA1501193363

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639790_145639795delinsAATAAT , CM000666.2:g.145639790_145639795delinsAATAAT	GRCh38
NC_000004.11:g.146560942_146560947delinsAATAAT , CM000666.1:g.146560942_146560947delinsAATAAT	GRCh37
NC_000004.10:g.146780392_146780397delinsAATAAT	NCBI36
NG_007536.1:g.25493_25498delinsAATAAT
NG_007536.2:g.45749_45754delinsAATAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+212_439+217delinsAATAAT	ENSP00000442284.3:n.439+212_439+217delinsAATAAT
ENST00000647947.1:c.*147_*152delinsAATAAT	ENSP00000496781.1:n.*147_*152delinsAATAAT
ENST00000648388.1:c.439+212_439+217delinsAATAAT	ENSP00000497046.1:n.439+212_439+217delinsAATAAT
ENST00000649156.2:c.439+212_439+217delinsAATAAT MANE Select	ENSP00000497008.1:n.439+212_439+217delinsAATAAT
ENST00000649173.1:c.439+212_439+217delinsAATAAT	ENSP00000497871.1:n.439+212_439+217delinsAATAAT
ENST00000649704.1:c.439+212_439+217delinsAATAAT	ENSP00000497680.1:n.439+212_439+217delinsAATAAT
ENST00000679563.1:c.439+212_439+217delinsAATAAT	ENSP00000506503.1:n.439+212_439+217delinsAATAAT
ENST00000679930.1:c.435+216_435+221delinsAATAAT	ENSP00000506293.1:n.435+216_435+221delinsAATAAT
ENST00000281317.9:c.439+212_439+217delinsAATAAT	ENSP00000281317.5:n.439+212_439+217delinsAATAAT
ENST00000506919.1:n.927+212_927+217delinsAATAAT
ENST00000511969.4:c.439+212_439+217delinsAATAAT	ENSP00000427422.1:n.439+212_439+217delinsAATAAT
ENST00000541599.4:c.439+212_439+217delinsAATAAT	ENSP00000442284.2:n.439+212_439+217delinsAATAAT
NM_172250.2:c.439+212_439+217delinsAATAAT	NP_758454.1:n.439+212_439+217delinsAATAAT
XM_011531684.1:c.439+212_439+217delinsAATAAT	XP_011529986.1:n.439+212_439+217delinsAATAAT
XM_011531685.1:c.439+212_439+217delinsAATAAT	XP_011529987.1:n.439+212_439+217delinsAATAAT
XM_011531686.1:c.-133_-128delinsAATAAT	XP_011529988.1:n.-133_-128delinsAATAAT
NM_172250.3:c.439+212_439+217delinsAATAAT MANE Select	NP_758454.1:n.439+212_439+217delinsAATAAT
XM_011531684.3:c.439+212_439+217delinsAATAAT	XP_011529986.1:n.439+212_439+217delinsAATAAT
XM_011531685.2:c.439+212_439+217delinsAATAAT	XP_011529987.1:n.439+212_439+217delinsAATAAT
XM_011531686.2:c.-133_-128delinsAATAAT	XP_011529988.1:n.-133_-128delinsAATAAT
NM_001375644.1:c.439+212_439+217delinsAATAAT	NP_001362573.1:n.439+212_439+217delinsAATAAT