Canonical Allele Identifier: CA1084818815

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v3: 5-177404135-G-GGTC
• gnomAD v4: 5-177404135-G-GGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404136_177404137insTCG , CM000667.2:g.177404136_177404137insTCG	GRCh38
NC_000005.9:g.176831137_176831138insTCG , CM000667.1:g.176831137_176831138insTCG	GRCh37
NC_000005.8:g.176763743_176763744insTCG	NCBI36
NG_007568.1:g.10441_10442insGAC , LRG_145:g.10441_10442insGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*685-46_*685-45insGAC (F12)	ENSP00000512476.1:n.*685-46_*685-45insGAC...
ENST00000696193.1:c.*1389-29_*1389-28insGAC (F12)	ENSP00000512477.1:n.*1389-29_*1389-28insG...
ENST00000696194.1:c.*609-46_*609-45insGAC (F12)	ENSP00000512478.1:n.*609-46_*609-45insGAC...
ENST00000696195.1:n.3822-46_3822-45insGAC (F12)
ENST00000696200.1:n.1122-46_1122-45insGAC (F12)
ENST00000696201.1:c.1019-46_1019-45insGAC (F12)	ENSP00000512482.1:n.1019-46_1019-45insGAC...
ENST00000253496.4:c.1019-46_1019-45insGAC (F12) MANE Select	ENSP00000253496.3:n.1019-46_1019-45insGAC...
ENST00000253496.3:c.1019-46_1019-45insGAC (F12)	ENSP00000253496.3:n.1019-46_1019-45insGAC...
ENST00000502598.5:c.-45+610_-45+611insTCG (GRK6)	ENSP00000422873.1:n.-45+610_-45+611insTCG...
ENST00000502854.5:n.278-46_278-45insGAC (F12)
ENST00000503736.1:n.391-46_391-45insGAC (F12)
ENST00000510358.5:n.337_338insGAC (F12)
NM_000505.3:c.1019-46_1019-45insGAC , LRG_145t1:c.1019-46_1019-45insGAC (F12)	NP_000496.2:n.1019-46_1019-45insGAC
XM_011534461.1:c.1019-46_1019-45insGAC (F12)	XP_011532763.1:n.1019-46_1019-45insGAC
XM_011534462.1:c.683-46_683-45insGAC (F12)	XP_011532764.1:n.683-46_683-45insGAC
XM_011534462.2:c.683-46_683-45insGAC (F12)	XP_011532764.1:n.683-46_683-45insGAC
XM_017009773.2:c.1416+7062_1416+7063insTCG (SLC34A1)	XP_016865262.1:n.1416+7062_1416+7063insTC...
NM_000505.4:c.1019-46_1019-45insGAC (F12) MANE Select	NP_000496.2:n.1019-46_1019-45insGAC