Canonical Allele Identifier: CA6778772

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2882663
• ClinVar RCV Id: RCV003608520
• dbSNP Id: rs754154826
• ExAC: 12:109994951 C / CAG
• gnomAD v2: 12-109994951-C-CAG
• gnomAD v4: 12-109557146-C-CAG
• MyVariant Identifiers: chr12:g.109994953_109994954insAG (hg19) ; chr12:g.109994951_109994952insAG (hg19) ; chr12:g.109557146_109557147insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557156_109557157dup , CM000674.2:g.109557156_109557157dup	GRCh38
NC_000012.11:g.109994961_109994962dup , CM000674.1:g.109994961_109994962dup	GRCh37
NC_000012.10:g.108479344_108479345dup	NCBI36
NG_007096.1:g.21350_21351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-12_645-11dup MANE Select	ENSP00000445920.1:n.645-12_645-11dup
ENST00000537496.5:c.*210-12_*210-11dup	ENSP00000444793.1:n.*210-12_*210-11dup
ENST00000540016.5:c.489-12_489-11dup	ENSP00000474582.1:n.489-12_489-11dup
ENST00000541763.6:c.870-12_870-11dup	ENSP00000474981.1:n.870-12_870-11dup
ENST00000544051.5:c.*526-12_*526-11dup	ENSP00000438079.1:n.*526-12_*526-11dup
ENST00000545712.6:c.645-12_645-11dup	ENSP00000445920.1:n.645-12_645-11dup
NM_052845.3:c.645-12_645-11dup	NP_443077.1:n.645-12_645-11dup
NR_038118.1:n.805-12_805-11dup
XM_011538266.1:c.490-12_490-11dup	XP_011536568.1:n.490-12_490-11dup
XM_011538267.1:c.490-12_490-11dup	XP_011536569.1:n.490-12_490-11dup
XM_011538268.1:c.372-12_372-11dup	XP_011536570.1:n.372-12_372-11dup
XM_011538269.1:c.369-12_369-11dup	XP_011536571.1:n.369-12_369-11dup
XM_011538267.3:c.490-12_490-11dup	XP_011536569.1:n.490-12_490-11dup
XM_011538268.2:c.372-12_372-11dup	XP_011536570.1:n.372-12_372-11dup
XM_011538269.2:c.369-12_369-11dup	XP_011536571.1:n.369-12_369-11dup
NM_052845.4:c.645-12_645-11dup MANE Select	NP_443077.1:n.645-12_645-11dup
NR_038118.2:n.756-12_756-11dup