Canonical Allele Identifier: CA2672261637

Gene: MMAA

Linked Data

• gnomAD v4: 4-145639225-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639227_145639228del , CM000666.2:g.145639227_145639228del	GRCh38
NC_000004.11:g.146560379_146560380del , CM000666.1:g.146560379_146560380del	GRCh37
NC_000004.10:g.146779829_146779830del	NCBI36
NG_007536.1:g.24930_24931del
NG_007536.2:g.45186_45187del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.88_89del	ENSP00000442284.3:p.Ser30LysfsTer15
ENST00000647947.1:c.88_89del	ENSP00000496781.1:p.Ser30LysfsTer15
ENST00000648388.1:c.88_89del	ENSP00000497046.1:p.Ser30LysfsTer15
ENST00000649156.2:c.88_89del MANE Select	ENSP00000497008.1:p.Ser30LysfsTer15
ENST00000649173.1:c.88_89del	ENSP00000497871.1:p.Ser30LysfsTer15
ENST00000649704.1:c.88_89del	ENSP00000497680.1:p.Ser30LysfsTer15
ENST00000679563.1:c.88_89del	ENSP00000506503.1:p.Ser30LysfsTer15
ENST00000679930.1:c.88_89del	ENSP00000506293.1:p.Ser30LysfsTer15
ENST00000281317.9:c.88_89del	ENSP00000281317.5:p.Ser30LysfsTer15
ENST00000506919.1:n.576_577del
ENST00000511969.4:c.88_89del	ENSP00000427422.1:p.Ser30LysfsTer15
ENST00000541599.4:c.88_89del	ENSP00000442284.2:p.Ser30LysfsTer15
NM_172250.2:c.88_89del	NP_758454.1:p.Ser30LysfsTer15
XM_011531684.1:c.88_89del	XP_011529986.1:p.Ser30LysfsTer15
XM_011531685.1:c.88_89del	XP_011529987.1:p.Ser30LysfsTer15
NM_172250.3:c.88_89del MANE Select	NP_758454.1:p.Ser30LysfsTer15
XM_011531684.3:c.88_89del	XP_011529986.1:p.Ser30LysfsTer15
XM_011531685.2:c.88_89del	XP_011529987.1:p.Ser30LysfsTer15
XM_011531686.2:c.-696_-695del	XP_011529988.1:n.-696_-695del
NM_001375644.1:c.88_89del	NP_001362573.1:p.Ser30LysfsTer15