Canonical Allele Identifier: CA1603608805

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404094_177404095delinsTG , CM000667.2:g.177404094_177404095delinsTG	GRCh38
NC_000005.9:g.176831095_176831096delinsTG , CM000667.1:g.176831095_176831096delinsTG	GRCh37
NC_000005.8:g.176763701_176763702delinsTG	NCBI36
NG_007568.1:g.10482_10483delinsCA , LRG_145:g.10482_10483delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-5_*685-4delinsCA (F12)	ENSP00000512476.1:n.*685-5_*685-4delinsCA
ENST00000696193.1:c.*1401_*1402delinsCA (F12)	ENSP00000512477.1:n.*1401_*1402delinsCA
ENST00000696194.1:c.*609-5_*609-4delinsCA (F12)	ENSP00000512478.1:n.*609-5_*609-4delinsCA
ENST00000696195.1:n.3822-5_3822-4delinsCA (F12)
ENST00000696200.1:n.1122-5_1122-4delinsCA (F12)
ENST00000696201.1:c.1019-5_1019-4delinsCA (F12)	ENSP00000512482.1:n.1019-5_1019-4delinsCA
ENST00000253496.4:c.1019-5_1019-4delinsCA (F12) MANE Select	ENSP00000253496.3:n.1019-5_1019-4delinsCA
ENST00000253496.3:c.1019-5_1019-4delinsCA (F12)	ENSP00000253496.3:n.1019-5_1019-4delinsCA
ENST00000502598.5:c.-45+568_-45+569delinsTG (GRK6)	ENSP00000422873.1:n.-45+568_-45+569delinsTG
ENST00000502854.5:n.278-5_278-4delinsCA (F12)
ENST00000503736.1:n.391-5_391-4delinsCA (F12)
ENST00000510358.5:n.378_379delinsCA (F12)
NM_000505.3:c.1019-5_1019-4delinsCA , LRG_145t1:c.1019-5_1019-4delinsCA (F12)	NP_000496.2:n.1019-5_1019-4delinsCA
XM_011534461.1:c.1019-5_1019-4delinsCA (F12)	XP_011532763.1:n.1019-5_1019-4delinsCA
XM_011534462.1:c.683-5_683-4delinsCA (F12)	XP_011532764.1:n.683-5_683-4delinsCA
XM_011534462.2:c.683-5_683-4delinsCA (F12)	XP_011532764.1:n.683-5_683-4delinsCA
XM_017009773.2:c.1416+7020_1416+7021delinsTG (SLC34A1)	XP_016865262.1:n.1416+7020_1416+7021delinsTG
NM_000505.4:c.1019-5_1019-4delinsCA (F12) MANE Select	NP_000496.2:n.1019-5_1019-4delinsCA