Canonical Allele Identifier: CA1603609778

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404622_177404623delinsCG , CM000667.2:g.177404622_177404623delinsCG	GRCh38
NC_000005.9:g.176831623_176831624delinsCG , CM000667.1:g.176831623_176831624delinsCG	GRCh37
NC_000005.8:g.176764229_176764230delinsCG	NCBI36
NG_007568.1:g.9954_9955delinsCG , LRG_145:g.9954_9955delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*342_*343delinsCG (F12)	ENSP00000512476.1:n.*342_*343delinsCG
ENST00000696193.1:c.*1046_*1047delinsCG (F12)	ENSP00000512477.1:n.*1046_*1047delinsCG
ENST00000696194.1:c.*266_*267delinsCG (F12)	ENSP00000512478.1:n.*266_*267delinsCG
ENST00000696195.1:n.3479_3480delinsCG (F12)
ENST00000696200.1:n.779_780delinsCG (F12)
ENST00000696201.1:c.676_677delinsCG (F12)	ENSP00000512482.1:p.Arg226=
ENST00000253496.4:c.676_677delinsCG (F12) MANE Select	ENSP00000253496.3:p.Arg226=
ENST00000253496.3:c.676_677delinsCG (F12)	ENSP00000253496.3:p.Arg226=
ENST00000502598.5:c.-45+1096_-45+1097delinsCG (GRK6)	ENSP00000422873.1:n.-45+1096_-45+1097delinsCG
ENST00000503736.1:n.172+187_172+188delinsCG (F12)
ENST00000506296.5:c.-45+65_-45+66delinsCG (GRK6)	ENSP00000421055.1:n.-45+65_-45+66delinsCG
NM_000505.3:c.676_677delinsCG , LRG_145t1:c.676_677delinsCG (F12)	NP_000496.2:p.Arg226=
XM_011534461.1:c.676_677delinsCG (F12)	XP_011532763.1:p.Arg226=
XM_011534462.1:c.340_341delinsCG (F12)	XP_011532764.1:p.Arg114=
XM_011534462.2:c.340_341delinsCG (F12)	XP_011532764.1:p.Arg114=
XM_017009773.2:c.1417-7142_1417-7141delinsCG (SLC34A1)	XP_016865262.1:n.1417-7142_1417-7141delinsCG
NM_000505.4:c.676_677delinsCG (F12) MANE Select	NP_000496.2:p.Arg226=