Canonical Allele Identifier: CA2200628377

Gene: TM2D3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646558_101646563delinsGCTTTA , CM000677.2:g.101646558_101646563delinsGCTTTA	GRCh38
NC_000015.9:g.102186761_102186766delinsGCTTTA , CM000677.1:g.102186761_102186766delinsGCTTTA	GRCh37
NC_000015.8:g.100004284_100004289delinsGCTTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+162_502+167delinsTAAAGC MANE Select	ENSP00000330433.3:n.502+162_502+167delinsTAAAGC
ENST00000333202.7:c.502+162_502+167delinsTAAAGC	ENSP00000330433.3:n.502+162_502+167delinsTAAAGC
ENST00000347970.7:c.424+162_424+167delinsTAAAGC	ENSP00000327584.3:n.424+162_424+167delinsTAAAGC
ENST00000428002.6:c.424+162_424+167delinsTAAAGC	ENSP00000402179.2:n.424+162_424+167delinsTAAAGC
ENST00000558129.5:c.333+162_333+167delinsTAAAGC
ENST00000558677.5:c.803+162_803+167delinsTAAAGC
ENST00000559024.5:n.685_690delinsTAAAGC
ENST00000559107.5:c.502+162_502+167delinsTAAAGC	ENSP00000454131.1:n.502+162_502+167delinsTAAAGC
ENST00000560013.5:c.*870+162_*870+167delinsTAAAGC	ENSP00000453503.1:n.*870+162_*870+167delinsTAAAGC
ENST00000561373.1:c.307+162_307+167delinsTAAAGC	ENSP00000452823.1:n.307+162_307+167delinsTAAAGC
NM_001307960.1:c.424+162_424+167delinsTAAAGC	NP_001294889.1:n.424+162_424+167delinsTAAAGC
NM_001308026.1:c.502+162_502+167delinsTAAAGC	NP_001294955.1:n.502+162_502+167delinsTAAAGC
NM_025141.3:c.424+162_424+167delinsTAAAGC	NP_079417.2:n.424+162_424+167delinsTAAAGC
NM_078474.2:c.502+162_502+167delinsTAAAGC	NP_510883.2:n.502+162_502+167delinsTAAAGC
NM_078474.3:c.502+162_502+167delinsTAAAGC MANE Select	NP_510883.2:n.502+162_502+167delinsTAAAGC
NM_001307960.2:c.424+162_424+167delinsTAAAGC	NP_001294889.1:n.424+162_424+167delinsTAAAGC
NM_001308026.2:c.502+162_502+167delinsTAAAGC	NP_001294955.1:n.502+162_502+167delinsTAAAGC
NM_025141.4:c.424+162_424+167delinsTAAAGC	NP_079417.2:n.424+162_424+167delinsTAAAGC