Canonical Allele Identifier: CA2672262079

Gene: MMAA

Linked Data

• gnomAD v4: 4-145645848-G-GTCAGATTAATCTTAACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145645849_145645850insCAGATTAATCTTAACATT , CM000666.2:g.145645849_145645850insCAGATTAATCTTAACATT	GRCh38
NC_000004.11:g.146567001_146567002insCAGATTAATCTTAACATT , CM000666.1:g.146567001_146567002insCAGATTAATCTTAACATT	GRCh37
NC_000004.10:g.146786451_146786452insCAGATTAATCTTAACATT	NCBI36
NG_007536.1:g.31552_31553insCAGATTAATCTTAACATT
NG_007536.2:g.51808_51809insCAGATTAATCTTAACATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000442284.3:n.563-137_563-136insCAG...
ENST00000647947.1:c.*347-137_*347-136insCAGATTAATCTTAACATT	ENSP00000496781.1:n.*347-137_*347-136insC...
ENST00000648388.1:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000497046.1:n.563-137_563-136insCAG...
ENST00000649156.2:c.563-137_563-136insCAGATTAATCTTAACATT MANE Select	ENSP00000497008.1:n.563-137_563-136insCAG...
ENST00000649173.1:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000497871.1:n.563-137_563-136insCAG...
ENST00000649704.1:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000497680.1:n.563-137_563-136insCAG...
ENST00000679563.1:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000506503.1:n.563-137_563-136insCAG...
ENST00000679930.1:c.*82-137_*82-136insCAGATTAATCTTAACATT	ENSP00000506293.1:n.*82-137_*82-136insCAG...
ENST00000281317.9:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000281317.5:n.563-137_563-136insCAG...
ENST00000506919.1:n.1051-137_1051-136insCAGATTAATCTTAACATT
ENST00000511969.4:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000427422.1:n.563-137_563-136insCAG...
ENST00000541599.4:c.563-137_563-136insCAGATTAATCTTAACATT	ENSP00000442284.2:n.563-137_563-136insCAG...
NM_172250.2:c.563-137_563-136insCAGATTAATCTTAACATT	NP_758454.1:n.563-137_563-136insCAGATTAAT...
XM_011531684.1:c.563-137_563-136insCAGATTAATCTTAACATT	XP_011529986.1:n.563-137_563-136insCAGATT...
XM_011531685.1:c.563-137_563-136insCAGATTAATCTTAACATT	XP_011529987.1:n.563-137_563-136insCAGATT...
XM_011531686.1:c.68-137_68-136insCAGATTAATCTTAACATT	XP_011529988.1:n.68-137_68-136insCAGATTAA...
NM_172250.3:c.563-137_563-136insCAGATTAATCTTAACATT MANE Select	NP_758454.1:n.563-137_563-136insCAGATTAAT...
XM_011531684.3:c.563-137_563-136insCAGATTAATCTTAACATT	XP_011529986.1:n.563-137_563-136insCAGATT...
XM_011531685.2:c.563-137_563-136insCAGATTAATCTTAACATT	XP_011529987.1:n.563-137_563-136insCAGATT...
XM_011531686.2:c.68-137_68-136insCAGATTAATCTTAACATT	XP_011529988.1:n.68-137_68-136insCAGATTAA...
NM_001375644.1:c.563-137_563-136insCAGATTAATCTTAACATT	NP_001362573.1:n.563-137_563-136insCAGATT...