Canonical Allele Identifier: CA2062455041

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568722_109568723delinsTC , CM000674.2:g.109568722_109568723delinsTC	GRCh38
NC_000012.11:g.110006527_110006528delinsTC , CM000674.1:g.110006527_110006528delinsTC	GRCh37
NC_000012.10:g.108490910_108490911delinsTC	NCBI36
NG_007096.1:g.9775_9776delinsGA
NG_007702.1:g.28_29delinsTC , LRG_156:g.28_29delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+47_290+48delinsGA MANE Select	ENSP00000445920.1:n.290+47_290+48delinsGA
ENST00000420167.6:c.*119+47_*119+48delinsGA	ENSP00000416136.2:n.*119+47_*119+48delinsGA
ENST00000503497.7:c.290+47_290+48delinsGA	ENSP00000474881.1:n.290+47_290+48delinsGA
ENST00000536760.1:n.293+47_293+48delinsGA
ENST00000537236.2:c.*43_*44delinsGA	ENSP00000483818.1:n.*43_*44delinsGA
ENST00000537496.5:c.290+47_290+48delinsGA	ENSP00000444793.1:n.290+47_290+48delinsGA
ENST00000540016.5:c.135-3547_135-3546delinsGA	ENSP00000474582.1:n.135-3547_135-3546delinsGA
ENST00000541763.6:c.290+47_290+48delinsGA	ENSP00000474981.1:n.290+47_290+48delinsGA
ENST00000542390.5:n.317+47_317+48delinsGA
ENST00000544051.5:c.*84+47_*84+48delinsGA	ENSP00000438079.1:n.*84+47_*84+48delinsGA
ENST00000545712.6:c.290+47_290+48delinsGA	ENSP00000445920.1:n.290+47_290+48delinsGA
NM_052845.3:c.290+47_290+48delinsGA	NP_443077.1:n.290+47_290+48delinsGA
NR_038118.1:n.363+47_363+48delinsGA
XM_011538266.1:c.-421_-420delinsGA	XP_011536568.1:n.-421_-420delinsGA
XM_011538267.1:c.-310_-309delinsGA	XP_011536569.1:n.-310_-309delinsGA
XM_011538269.1:c.-455_-454delinsGA	XP_011536571.1:n.-455_-454delinsGA
XM_011538267.3:c.-310_-309delinsGA	XP_011536569.1:n.-310_-309delinsGA
XM_011538269.2:c.-455_-454delinsGA	XP_011536571.1:n.-455_-454delinsGA
XM_024448961.1:c.290+47_290+48delinsGA	XP_024304729.1:n.290+47_290+48delinsGA
NM_052845.4:c.290+47_290+48delinsGA MANE Select	NP_443077.1:n.290+47_290+48delinsGA
NR_038118.2:n.314+47_314+48delinsGA