Canonical Allele Identifier: CA1603608499

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403749_177403750delinsAG , CM000667.2:g.177403749_177403750delinsAG	GRCh38
NC_000005.9:g.176830750_176830751delinsAG , CM000667.1:g.176830750_176830751delinsAG	GRCh37
NC_000005.8:g.176763356_176763357delinsAG	NCBI36
NG_007568.1:g.10827_10828delinsCT , LRG_145:g.10827_10828delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+109_*916+110delinsCT (F12)	ENSP00000512476.1:n.*916+109_*916+110delinsCT
ENST00000696193.1:c.*1637+109_*1637+110delinsCT (F12)	ENSP00000512477.1:n.*1637+109_*1637+110delinsCT
ENST00000696194.1:c.*840+109_*840+110delinsCT (F12)	ENSP00000512478.1:n.*840+109_*840+110delinsCT
ENST00000696195.1:n.4053+109_4053+110delinsCT (F12)
ENST00000696200.1:n.1462_1463delinsCT (F12)
ENST00000696201.1:c.1250+109_1250+110delinsCT (F12)	ENSP00000512482.1:n.1250+109_1250+110delinsCT
ENST00000253496.4:c.1250+109_1250+110delinsCT (F12) MANE Select	ENSP00000253496.3:n.1250+109_1250+110delinsCT
ENST00000253496.3:c.1250+109_1250+110delinsCT (F12)	ENSP00000253496.3:n.1250+109_1250+110delinsCT
ENST00000502598.5:c.-45+223_-45+224delinsAG (GRK6)	ENSP00000422873.1:n.-45+223_-45+224delinsAG
ENST00000502854.5:n.618_619delinsCT (F12)
ENST00000503736.1:n.622+109_622+110delinsCT (F12)
ENST00000504406.5:n.1_2delinsCT (F12)
ENST00000510358.5:n.723_724delinsCT (F12)
NM_000505.3:c.1250+109_1250+110delinsCT , LRG_145t1:c.1250+109_1250+110delinsCT (F12)	NP_000496.2:n.1250+109_1250+110delinsCT
XM_011534461.1:c.1250+109_1250+110delinsCT (F12)	XP_011532763.1:n.1250+109_1250+110delinsCT
XM_011534462.1:c.914+109_914+110delinsCT (F12)	XP_011532764.1:n.914+109_914+110delinsCT
XM_011534462.2:c.914+109_914+110delinsCT (F12)	XP_011532764.1:n.914+109_914+110delinsCT
XM_017009773.2:c.1416+6675_1416+6676delinsAG (SLC34A1)	XP_016865262.1:n.1416+6675_1416+6676delinsAG
NM_000505.4:c.1250+109_1250+110delinsCT (F12) MANE Select	NP_000496.2:n.1250+109_1250+110delinsCT