Canonical Allele Identifier: CA3095149

Gene: MMAA

Linked Data

• ClinVar Variation Id: 440799
• ClinVar RCV Id: RCV000509035
• dbSNP Id: rs780082584
• ExAC: 4:146560584 GGGCCTGTTTAGCAGA / G
• gnomAD v2: 4-146560584-GGGCCTGTTTAGCAGA-G
• gnomAD v4: 4-145639432-GGGCCTGTTTAGCAGA-G
• MyVariant Identifiers: chr4:g.146560589_146560603del (hg19) ; chr4:g.146560585_146560599del (hg19) ; chr4:g.145639437_145639451del (hg38) ; chr4:g.145639433_145639447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639437_145639451del , CM000666.2:g.145639437_145639451del	GRCh38
NC_000004.11:g.146560589_146560603del , CM000666.1:g.146560589_146560603del	GRCh37
NC_000004.10:g.146780039_146780053del	NCBI36
NG_007536.1:g.25140_25154del
NG_007536.2:g.45396_45410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.298_312del	ENSP00000442284.3:p.Cys100_Ala104del
ENST00000647947.1:c.298_312del	ENSP00000496781.1:p.Cys100_Ala104del
ENST00000648388.1:c.298_312del	ENSP00000497046.1:p.Cys100_Ala104del
ENST00000649156.2:c.298_312del MANE Select	ENSP00000497008.1:p.Cys100_Ala104del
ENST00000649173.1:c.298_312del	ENSP00000497871.1:p.Cys100_Ala104del
ENST00000649704.1:c.298_312del	ENSP00000497680.1:p.Cys100_Ala104del
ENST00000679563.1:c.298_312del	ENSP00000506503.1:p.Cys100_Ala104del
ENST00000679930.1:c.298_312del	ENSP00000506293.1:p.Cys100_Ala104del
ENST00000281317.9:c.298_312del	ENSP00000281317.5:p.Cys100_Ala104del
ENST00000506919.1:n.786_800del
ENST00000511969.4:c.298_312del	ENSP00000427422.1:p.Cys100_Ala104del
ENST00000541599.4:c.298_312del	ENSP00000442284.2:p.Cys100_Ala104del
NM_172250.2:c.298_312del	NP_758454.1:p.Cys100_Ala104del
XM_011531684.1:c.298_312del	XP_011529986.1:p.Cys100_Ala104del
XM_011531685.1:c.298_312del	XP_011529987.1:p.Cys100_Ala104del
NM_172250.3:c.298_312del MANE Select	NP_758454.1:p.Cys100_Ala104del
XM_011531684.3:c.298_312del	XP_011529986.1:p.Cys100_Ala104del
XM_011531685.2:c.298_312del	XP_011529987.1:p.Cys100_Ala104del
XM_011531686.2:c.-486_-472del	XP_011529988.1:n.-486_-472del
NM_001375644.1:c.298_312del	NP_001362573.1:p.Cys100_Ala104del