Canonical Allele Identifier: CA1501193302

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639730_145639735delinsAGTTTT , CM000666.2:g.145639730_145639735delinsAGTTTT	GRCh38
NC_000004.11:g.146560882_146560887delinsAGTTTT , CM000666.1:g.146560882_146560887delinsAGTTTT	GRCh37
NC_000004.10:g.146780332_146780337delinsAGTTTT	NCBI36
NG_007536.1:g.25433_25438delinsAGTTTT
NG_007536.2:g.45689_45694delinsAGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+152_439+157delinsAGTTTT	ENSP00000442284.3:n.439+152_439+157delinsAGTTTT
ENST00000647947.1:c.*87_*92delinsAGTTTT	ENSP00000496781.1:n.*87_*92delinsAGTTTT
ENST00000648388.1:c.439+152_439+157delinsAGTTTT	ENSP00000497046.1:n.439+152_439+157delinsAGTTTT
ENST00000649156.2:c.439+152_439+157delinsAGTTTT MANE Select	ENSP00000497008.1:n.439+152_439+157delinsAGTTTT
ENST00000649173.1:c.439+152_439+157delinsAGTTTT	ENSP00000497871.1:n.439+152_439+157delinsAGTTTT
ENST00000649704.1:c.439+152_439+157delinsAGTTTT	ENSP00000497680.1:n.439+152_439+157delinsAGTTTT
ENST00000679563.1:c.439+152_439+157delinsAGTTTT	ENSP00000506503.1:n.439+152_439+157delinsAGTTTT
ENST00000679930.1:c.435+156_435+161delinsAGTTTT	ENSP00000506293.1:n.435+156_435+161delinsAGTTTT
ENST00000281317.9:c.439+152_439+157delinsAGTTTT	ENSP00000281317.5:n.439+152_439+157delinsAGTTTT
ENST00000506919.1:n.927+152_927+157delinsAGTTTT
ENST00000511969.4:c.439+152_439+157delinsAGTTTT	ENSP00000427422.1:n.439+152_439+157delinsAGTTTT
ENST00000541599.4:c.439+152_439+157delinsAGTTTT	ENSP00000442284.2:n.439+152_439+157delinsAGTTTT
NM_172250.2:c.439+152_439+157delinsAGTTTT	NP_758454.1:n.439+152_439+157delinsAGTTTT
XM_011531684.1:c.439+152_439+157delinsAGTTTT	XP_011529986.1:n.439+152_439+157delinsAGTTTT
XM_011531685.1:c.439+152_439+157delinsAGTTTT	XP_011529987.1:n.439+152_439+157delinsAGTTTT
XM_011531686.1:c.-193_-188delinsAGTTTT	XP_011529988.1:n.-193_-188delinsAGTTTT
NM_172250.3:c.439+152_439+157delinsAGTTTT MANE Select	NP_758454.1:n.439+152_439+157delinsAGTTTT
XM_011531684.3:c.439+152_439+157delinsAGTTTT	XP_011529986.1:n.439+152_439+157delinsAGTTTT
XM_011531685.2:c.439+152_439+157delinsAGTTTT	XP_011529987.1:n.439+152_439+157delinsAGTTTT
XM_011531686.2:c.-193_-188delinsAGTTTT	XP_011529988.1:n.-193_-188delinsAGTTTT
NM_001375644.1:c.439+152_439+157delinsAGTTTT	NP_001362573.1:n.439+152_439+157delinsAGTTTT