Canonical Allele Identifier: CA3095116

Gene: MMAA

Linked Data

• dbSNP Id: rs762276953
• ExAC: 4:146560368 T / TC
• gnomAD v2: 4-146560368-T-TC
• gnomAD v4: 4-145639216-T-TC
• MyVariant Identifiers: chr4:g.146560368_146560369insC (hg19) ; chr4:g.145639216_145639217insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639217dup , CM000666.2:g.145639217dup	GRCh38
NC_000004.11:g.146560369dup , CM000666.1:g.146560369dup	GRCh37
NC_000004.10:g.146779819dup	NCBI36
NG_007536.1:g.24920dup
NG_007536.2:g.45176dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.78dup	ENSP00000442284.3:p.Ile27HisfsTer19
ENST00000647947.1:c.78dup	ENSP00000496781.1:p.Ile27HisfsTer19
ENST00000648388.1:c.78dup	ENSP00000497046.1:p.Ile27HisfsTer19
ENST00000649156.2:c.78dup MANE Select	ENSP00000497008.1:p.Ile27HisfsTer19
ENST00000649173.1:c.78dup	ENSP00000497871.1:p.Ile27HisfsTer19
ENST00000649704.1:c.78dup	ENSP00000497680.1:p.Ile27HisfsTer19
ENST00000679563.1:c.78dup	ENSP00000506503.1:p.Ile27HisfsTer19
ENST00000679930.1:c.78dup	ENSP00000506293.1:p.Ile27HisfsTer19
ENST00000281317.9:c.78dup	ENSP00000281317.5:p.Ile27HisfsTer19
ENST00000506919.1:n.566dup
ENST00000511969.4:c.78dup	ENSP00000427422.1:p.Ile27HisfsTer19
ENST00000541599.4:c.78dup	ENSP00000442284.2:p.Ile27HisfsTer19
NM_172250.2:c.78dup	NP_758454.1:p.Ile27HisfsTer19
XM_011531684.1:c.78dup	XP_011529986.1:p.Ile27HisfsTer19
XM_011531685.1:c.78dup	XP_011529987.1:p.Ile27HisfsTer19
NM_172250.3:c.78dup MANE Select	NP_758454.1:p.Ile27HisfsTer19
XM_011531684.3:c.78dup	XP_011529986.1:p.Ile27HisfsTer19
XM_011531685.2:c.78dup	XP_011529987.1:p.Ile27HisfsTer19
XM_011531686.2:c.-706dup	XP_011529988.1:n.-706dup
NM_001375644.1:c.78dup	NP_001362573.1:p.Ile27HisfsTer19