Canonical Allele Identifier: CA1501193310
Gene: MMAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639733_145639736delinsTTTG , CM000666.2:g.145639733_145639736delinsTTTG GRCh38
NC_000004.11:g.146560885_146560888delinsTTTG , CM000666.1:g.146560885_146560888delinsTTTG GRCh37
NC_000004.10:g.146780335_146780338delinsTTTG NCBI36
NG_007536.1:g.25436_25439delinsTTTG
NG_007536.2:g.45692_45695delinsTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.439+155_439+158delinsTTTG ENSP00000442284.3:n.439+155_439+158delinsTTTG
ENST00000647947.1:c.*90_*93delinsTTTG ENSP00000496781.1:n.*90_*93delinsTTTG
ENST00000648388.1:c.439+155_439+158delinsTTTG ENSP00000497046.1:n.439+155_439+158delinsTTTG
ENST00000649156.2:c.439+155_439+158delinsTTTG MANE Select ENSP00000497008.1:n.439+155_439+158delinsTTTG
ENST00000649173.1:c.439+155_439+158delinsTTTG ENSP00000497871.1:n.439+155_439+158delinsTTTG
ENST00000649704.1:c.439+155_439+158delinsTTTG ENSP00000497680.1:n.439+155_439+158delinsTTTG
ENST00000679563.1:c.439+155_439+158delinsTTTG ENSP00000506503.1:n.439+155_439+158delinsTTTG
ENST00000679930.1:c.435+159_435+162delinsTTTG ENSP00000506293.1:n.435+159_435+162delinsTTTG
ENST00000281317.9:c.439+155_439+158delinsTTTG ENSP00000281317.5:n.439+155_439+158delinsTTTG
ENST00000506919.1:n.927+155_927+158delinsTTTG
ENST00000511969.4:c.439+155_439+158delinsTTTG ENSP00000427422.1:n.439+155_439+158delinsTTTG
ENST00000541599.4:c.439+155_439+158delinsTTTG ENSP00000442284.2:n.439+155_439+158delinsTTTG
NM_172250.2:c.439+155_439+158delinsTTTG NP_758454.1:n.439+155_439+158delinsTTTG
XM_011531684.1:c.439+155_439+158delinsTTTG XP_011529986.1:n.439+155_439+158delinsTTTG
XM_011531685.1:c.439+155_439+158delinsTTTG XP_011529987.1:n.439+155_439+158delinsTTTG
XM_011531686.1:c.-190_-187delinsTTTG XP_011529988.1:n.-190_-187delinsTTTG
NM_172250.3:c.439+155_439+158delinsTTTG MANE Select NP_758454.1:n.439+155_439+158delinsTTTG
XM_011531684.3:c.439+155_439+158delinsTTTG XP_011529986.1:n.439+155_439+158delinsTTTG
XM_011531685.2:c.439+155_439+158delinsTTTG XP_011529987.1:n.439+155_439+158delinsTTTG
XM_011531686.2:c.-190_-187delinsTTTG XP_011529988.1:n.-190_-187delinsTTTG
NM_001375644.1:c.439+155_439+158delinsTTTG NP_001362573.1:n.439+155_439+158delinsTTTG