Canonical Allele Identifier: CA2984991908

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404235dup , CM000667.2:g.177404235dup	GRCh38
NC_000005.9:g.176831236dup , CM000667.1:g.176831236dup	GRCh37
NC_000005.8:g.176763842dup	NCBI36
NG_007568.1:g.10344dup , LRG_145:g.10344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*647dup (F12)	ENSP00000512476.1:n.*647dup
ENST00000696193.1:c.*1351dup (F12)	ENSP00000512477.1:n.*1351dup
ENST00000696194.1:c.*571dup (F12)	ENSP00000512478.1:n.*571dup
ENST00000696195.1:n.3784dup (F12)
ENST00000696200.1:n.1084dup (F12)
ENST00000696201.1:c.981dup (F12)	ENSP00000512482.1:p.Thr328HisfsTer?
ENST00000253496.4:c.981dup (F12) MANE Select	ENSP00000253496.3:p.Thr328HisfsTer?
ENST00000253496.3:c.981dup (F12)	ENSP00000253496.3:p.Thr328HisfsTer?
ENST00000502598.5:c.-45+709dup (GRK6)	ENSP00000422873.1:n.-45+709dup
ENST00000502854.5:n.240dup (F12)
ENST00000503736.1:n.353dup (F12)
ENST00000510358.5:n.240dup (F12)
NM_000505.3:c.981dup , LRG_145t1:c.981dup (F12)	NP_000496.2:p.Thr328HisfsTer?
XM_011534461.1:c.981dup (F12)	XP_011532763.1:p.Thr328HisfsTer?
XM_011534462.1:c.645dup (F12)	XP_011532764.1:p.Thr216HisfsTer?
XM_011534462.2:c.645dup (F12)	XP_011532764.1:p.Thr216HisfsTer?
XM_017009773.2:c.1416+7161dup (SLC34A1)	XP_016865262.1:n.1416+7161dup
NM_000505.4:c.981dup (F12) MANE Select	NP_000496.2:p.Thr328HisfsTer?