Canonical Allele Identifier: CA2672261861

Gene: MMAA

Linked Data

• gnomAD v4: 4-145639808-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639810_145639811del , CM000666.2:g.145639810_145639811del	GRCh38
NC_000004.11:g.146560962_146560963del , CM000666.1:g.146560962_146560963del	GRCh37
NC_000004.10:g.146780412_146780413del	NCBI36
NG_007536.1:g.25513_25514del
NG_007536.2:g.45769_45770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+232_439+233del	ENSP00000442284.3:n.439+232_439+233del
ENST00000647947.1:c.*167_*168del	ENSP00000496781.1:n.*167_*168del
ENST00000648388.1:c.439+232_439+233del	ENSP00000497046.1:n.439+232_439+233del
ENST00000649156.2:c.439+232_439+233del MANE Select	ENSP00000497008.1:n.439+232_439+233del
ENST00000649173.1:c.439+232_439+233del	ENSP00000497871.1:n.439+232_439+233del
ENST00000649704.1:c.439+232_439+233del	ENSP00000497680.1:n.439+232_439+233del
ENST00000679563.1:c.439+232_439+233del	ENSP00000506503.1:n.439+232_439+233del
ENST00000679930.1:c.435+236_435+237del	ENSP00000506293.1:n.435+236_435+237del
ENST00000281317.9:c.439+232_439+233del	ENSP00000281317.5:n.439+232_439+233del
ENST00000506919.1:n.927+232_927+233del
ENST00000511969.4:c.439+232_439+233del	ENSP00000427422.1:n.439+232_439+233del
ENST00000541599.4:c.439+232_439+233del	ENSP00000442284.2:n.439+232_439+233del
NM_172250.2:c.439+232_439+233del	NP_758454.1:n.439+232_439+233del
XM_011531684.1:c.439+232_439+233del	XP_011529986.1:n.439+232_439+233del
XM_011531685.1:c.439+232_439+233del	XP_011529987.1:n.439+232_439+233del
XM_011531686.1:c.-113_-112del	XP_011529988.1:n.-113_-112del
NM_172250.3:c.439+232_439+233del MANE Select	NP_758454.1:n.439+232_439+233del
XM_011531684.3:c.439+232_439+233del	XP_011529986.1:n.439+232_439+233del
XM_011531685.2:c.439+232_439+233del	XP_011529987.1:n.439+232_439+233del
XM_011531686.2:c.-113_-112del	XP_011529988.1:n.-113_-112del
NM_001375644.1:c.439+232_439+233del	NP_001362573.1:n.439+232_439+233del