Canonical Allele Identifier: CA2062455241

Gene: MMAB

Linked Data

• dbSNP Id: rs1884537281
• gnomAD v3: 12-109568932-T-TA
• gnomAD v4: 12-109568932-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568935dup , CM000674.2:g.109568935dup	GRCh38
NC_000012.11:g.110006740dup , CM000674.1:g.110006740dup	GRCh37
NC_000012.10:g.108491123dup	NCBI36
NG_007096.1:g.9565dup
NG_007702.1:g.241dup , LRG_156:g.241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-70dup MANE Select	ENSP00000445920.1:n.197-70dup
ENST00000420167.6:c.*26-70dup	ENSP00000416136.2:n.*26-70dup
ENST00000503497.7:c.197-70dup	ENSP00000474881.1:n.197-70dup
ENST00000536760.1:n.200-70dup
ENST00000537236.2:c.197-70dup	ENSP00000483818.1:n.197-70dup
ENST00000537496.5:c.197-70dup	ENSP00000444793.1:n.197-70dup
ENST00000540016.5:c.135-3757dup	ENSP00000474582.1:n.135-3757dup
ENST00000541763.6:c.197-70dup	ENSP00000474981.1:n.197-70dup
ENST00000542390.5:n.224-70dup
ENST00000544051.5:c.135-70dup	ENSP00000438079.1:n.135-70dup
ENST00000545712.6:c.197-70dup	ENSP00000445920.1:n.197-70dup
NM_052845.3:c.197-70dup	NP_443077.1:n.197-70dup
NR_038118.1:n.270-70dup
XM_024448961.1:c.197-70dup	XP_024304729.1:n.197-70dup
NM_052845.4:c.197-70dup MANE Select	NP_443077.1:n.197-70dup
NR_038118.2:n.221-70dup