Canonical Allele Identifier: CA2837995066

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404587dup , CM000667.2:g.177404587dup	GRCh38
NC_000005.9:g.176831588dup , CM000667.1:g.176831588dup	GRCh37
NC_000005.8:g.176764194dup	NCBI36
NG_007568.1:g.9990dup , LRG_145:g.9990dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*378dup (F12)	ENSP00000512476.1:n.*378dup
ENST00000696193.1:c.*1082dup (F12)	ENSP00000512477.1:n.*1082dup
ENST00000696194.1:c.*302dup (F12)	ENSP00000512478.1:n.*302dup
ENST00000696195.1:n.3515dup (F12)
ENST00000696200.1:n.815dup (F12)
ENST00000696201.1:c.712dup (F12)	ENSP00000512482.1:p.Cys238LeufsTer?
ENST00000253496.4:c.712dup (F12) MANE Select	ENSP00000253496.3:p.Cys238LeufsTer?
ENST00000253496.3:c.712dup (F12)	ENSP00000253496.3:p.Cys238LeufsTer?
ENST00000502598.5:c.-45+1061dup (GRK6)	ENSP00000422873.1:n.-45+1061dup
ENST00000503736.1:n.173-174dup (F12)
ENST00000506296.5:c.-45+30dup (GRK6)	ENSP00000421055.1:n.-45+30dup
NM_000505.3:c.712dup , LRG_145t1:c.712dup (F12)	NP_000496.2:p.Cys238LeufsTer?
XM_011534461.1:c.712dup (F12)	XP_011532763.1:p.Cys238LeufsTer?
XM_011534462.1:c.376dup (F12)	XP_011532764.1:p.Cys126LeufsTer?
XM_011534462.2:c.376dup (F12)	XP_011532764.1:p.Cys126LeufsTer?
XM_017009773.2:c.1417-7177dup (SLC34A1)	XP_016865262.1:n.1417-7177dup
NM_000505.4:c.712dup (F12) MANE Select	NP_000496.2:p.Cys238LeufsTer?