Canonical Allele Identifier: CA2727260706

Gene: MMAB

Linked Data

• dbSNP Id: rs2136208429

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568867_109568868insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT , CM000674.2:g.109568867_109568868insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT	GRCh38
NC_000012.11:g.110006672_110006673insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT , CM000674.1:g.110006672_110006673insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT	GRCh37
NC_000012.10:g.108491055_108491056insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT	NCBI36
NG_007096.1:g.9631_9632insGGATCCCCAAGATTTACACCAAAACGGGAGA
NG_007702.1:g.173_174insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT , LRG_156:g.173_174insCTCCCGTTTTGGTGTAAATCTTGGGGATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA MANE Select	ENSP00000445920.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000420167.6:c.*26-4_*26-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000416136.2:n.*26-4_*26-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000503497.7:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000474881.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000536760.1:n.200-4_200-3insGGATCCCCAAGATTTACACCAAAACGGGAGA
ENST00000537236.2:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000483818.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000537496.5:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000444793.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000540016.5:c.135-3691_135-3690insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000474582.1:n.135-3691_135-3690insGGATCCCCAAGATTTACACCA...
ENST00000541763.6:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000474981.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000542390.5:n.224-4_224-3insGGATCCCCAAGATTTACACCAAAACGGGAGA
ENST00000544051.5:c.135-4_135-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000438079.1:n.135-4_135-3insGGATCCCCAAGATTTACACCAAAACGG...
ENST00000545712.6:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	ENSP00000445920.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGG...
NM_052845.3:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	NP_443077.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA
NR_038118.1:n.270-4_270-3insGGATCCCCAAGATTTACACCAAAACGGGAGA
XM_024448961.1:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA	XP_024304729.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAG...
NM_052845.4:c.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA MANE Select	NP_443077.1:n.197-4_197-3insGGATCCCCAAGATTTACACCAAAACGGGAGA
NR_038118.2:n.221-4_221-3insGGATCCCCAAGATTTACACCAAAACGGGAGA