Canonical Allele Identifier: CA2672261984

Gene: MMAA

Linked Data

• gnomAD v4: 4-145642346-ATCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145642348_145642351del , CM000666.2:g.145642348_145642351del	GRCh38
NC_000004.11:g.146563500_146563503del , CM000666.1:g.146563500_146563503del	GRCh37
NC_000004.10:g.146782950_146782953del	NCBI36
NG_007536.1:g.28051_28054del
NG_007536.2:g.48307_48310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.440-15_440-12del	ENSP00000442284.3:n.440-15_440-12del
ENST00000647947.1:c.*224-15_*224-12del	ENSP00000496781.1:n.*224-15_*224-12del
ENST00000648388.1:c.440-15_440-12del	ENSP00000497046.1:n.440-15_440-12del
ENST00000649156.2:c.440-15_440-12del MANE Select	ENSP00000497008.1:n.440-15_440-12del
ENST00000649173.1:c.440-15_440-12del	ENSP00000497871.1:n.440-15_440-12del
ENST00000649704.1:c.440-15_440-12del	ENSP00000497680.1:n.440-15_440-12del
ENST00000679563.1:c.440-15_440-12del	ENSP00000506503.1:n.440-15_440-12del
ENST00000679930.1:c.436-15_436-12del	ENSP00000506293.1:n.436-15_436-12del
ENST00000281317.9:c.440-15_440-12del	ENSP00000281317.5:n.440-15_440-12del
ENST00000506919.1:n.928-15_928-12del
ENST00000511969.4:c.440-15_440-12del	ENSP00000427422.1:n.440-15_440-12del
ENST00000541599.4:c.440-15_440-12del	ENSP00000442284.2:n.440-15_440-12del
NM_172250.2:c.440-15_440-12del	NP_758454.1:n.440-15_440-12del
XM_011531684.1:c.440-15_440-12del	XP_011529986.1:n.440-15_440-12del
XM_011531685.1:c.440-15_440-12del	XP_011529987.1:n.440-15_440-12del
XM_011531686.1:c.-56-15_-56-12del	XP_011529988.1:n.-56-15_-56-12del
NM_172250.3:c.440-15_440-12del MANE Select	NP_758454.1:n.440-15_440-12del
XM_011531684.3:c.440-15_440-12del	XP_011529986.1:n.440-15_440-12del
XM_011531685.2:c.440-15_440-12del	XP_011529987.1:n.440-15_440-12del
XM_011531686.2:c.-56-15_-56-12del	XP_011529988.1:n.-56-15_-56-12del
NM_001375644.1:c.440-15_440-12del	NP_001362573.1:n.440-15_440-12del