Canonical Allele Identifier: CA885313731

Gene: GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1195966913
• gnomAD v3: 1-108877092-C-CG
• gnomAD v4: 1-108877092-C-CG
• MyVariant Identifiers: chr1:g.109419714_109419715insG (hg19) ; chr1:g.108877092_108877093insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108877097dup , CM000663.2:g.108877097dup	GRCh38
NC_000001.10:g.109419719dup , CM000663.1:g.109419719dup	GRCh37
NC_000001.9:g.109221242dup	NCBI36
NG_028108.1:g.5117dup
NG_028108.2:g.6748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264126.9:c.-380dup (GPSM2) MANE Select	ENSP00000264126.3:n.-380dup
ENST00000357393.6:c.1-27517dup (AKNAD1)	ENSP00000349968.6:n.1-27517dup
ENST00000441735.2:c.-298dup (GPSM2)	ENSP00000390629.2:n.-298dup
ENST00000642355.1:c.-380dup (GPSM2)	ENSP00000496104.1:n.-380dup
ENST00000643094.1:c.-426dup (GPSM2)	ENSP00000495317.1:n.-426dup
ENST00000645164.2:c.-194dup (GPSM2)	ENSP00000496756.2:n.-194dup
ENST00000674700.1:c.-133dup (GPSM2)	ENSP00000501743.1:n.-133dup
ENST00000674731.1:c.-133dup (GPSM2)	ENSP00000502401.1:n.-133dup
ENST00000674914.1:c.-191dup (GPSM2)	ENSP00000501579.1:n.-191dup
ENST00000675776.1:n.116dup (GPSM2)
ENST00000675829.1:n.138dup (GPSM2)
ENST00000676404.1:c.-133dup (GPSM2)	ENSP00000502346.1:n.-133dup
ENST00000264126.7:c.-380dup (GPSM2)	ENSP00000264126.3:n.-380dup
ENST00000357393.5:c.115-27517dup	ENSP00000349968.5:n.115-27517dup
ENST00000406462.6:c.-380dup (GPSM2)	ENSP00000385510.1:n.-380dup
ENST00000435987.5:c.-148dup (GPSM2)	ENSP00000408664.1:n.-148dup
NM_013296.4:c.-380dup (GPSM2)	NP_037428.3:n.-380dup
XM_005270787.2:c.-148dup (GPSM2)	XP_005270844.1:n.-148dup
XM_006710589.1:c.-133dup (GPSM2)	XP_006710652.1:n.-133dup
XM_011541301.1:c.-380dup (GPSM2)	XP_011539603.1:n.-380dup
XM_011541303.1:c.-380dup (GPSM2)	XP_011539605.1:n.-380dup
NM_001321038.1:c.-148dup (GPSM2)	NP_001307967.1:n.-148dup
NM_001321039.1:c.-380dup (GPSM2)	NP_001307968.1:n.-380dup
XM_006710589.3:c.-133dup (GPSM2)	XP_006710652.1:n.-133dup
XM_011541301.2:c.-380dup (GPSM2)	XP_011539603.1:n.-380dup
XM_011541302.3:c.-624dup (GPSM2)	XP_011539604.1:n.-624dup
XM_011541303.3:c.-380dup (GPSM2)	XP_011539605.1:n.-380dup
XM_017001097.2:c.-530dup (GPSM2)	XP_016856586.1:n.-530dup
XM_017001098.2:c.-298dup (GPSM2)	XP_016856587.1:n.-298dup
NM_013296.5:c.-380dup (GPSM2) MANE Select	NP_037428.3:n.-380dup
NM_001321038.2:c.-148dup (GPSM2)	NP_001307967.1:n.-148dup
NM_001321039.2:c.-380dup (GPSM2)	NP_001307968.1:n.-380dup
NM_001321039.3:c.-380dup (GPSM2)	NP_001307968.1:n.-380dup