Canonical Allele Identifier: CA658789125

Gene: MMAA

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639349_145639381del , CM000666.2:g.145639349_145639381del	GRCh38
NC_000004.11:g.146560501_146560533del , CM000666.1:g.146560501_146560533del	GRCh37
NC_000004.10:g.146779951_146779983del	NCBI36
NG_007536.1:g.25052_25084del
NG_007536.2:g.45308_45340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.210_242del	ENSP00000442284.3:p.Leu71_Lys81del
ENST00000647947.1:c.210_242del	ENSP00000496781.1:p.Leu71_Lys81del
ENST00000648388.1:c.210_242del	ENSP00000497046.1:p.Leu71_Lys81del
ENST00000649156.2:c.210_242del MANE Select	ENSP00000497008.1:p.Leu71_Lys81del
ENST00000649173.1:c.210_242del	ENSP00000497871.1:p.Leu71_Lys81del
ENST00000649704.1:c.210_242del	ENSP00000497680.1:p.Leu71_Lys81del
ENST00000679563.1:c.210_242del	ENSP00000506503.1:p.Leu71_Lys81del
ENST00000679930.1:c.210_242del	ENSP00000506293.1:p.Leu71_Lys81del
ENST00000281317.9:c.210_242del	ENSP00000281317.5:p.Leu71_Lys81del
ENST00000506919.1:n.698_730del
ENST00000511969.4:c.210_242del	ENSP00000427422.1:p.Leu71_Lys81del
ENST00000541599.4:c.210_242del	ENSP00000442284.2:p.Leu71_Lys81del
NM_172250.2:c.210_242del	NP_758454.1:p.Leu71_Lys81del
XM_011531684.1:c.210_242del	XP_011529986.1:p.Leu71_Lys81del
XM_011531685.1:c.210_242del	XP_011529987.1:p.Leu71_Lys81del
NM_172250.3:c.210_242del MANE Select	NP_758454.1:p.Leu71_Lys81del
XM_011531684.3:c.210_242del	XP_011529986.1:p.Leu71_Lys81del
XM_011531685.2:c.210_242del	XP_011529987.1:p.Leu71_Lys81del
XM_011531686.2:c.-574_-542del	XP_011529988.1:n.-574_-542del
NM_001375644.1:c.210_242del	NP_001362573.1:p.Leu71_Lys81del