Canonical Allele Identifier: CA2676711438

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404232-T-TGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404233_177404238dup , CM000667.2:g.177404233_177404238dup	GRCh38
NC_000005.9:g.176831234_176831239dup , CM000667.1:g.176831234_176831239dup	GRCh37
NC_000005.8:g.176763840_176763845dup	NCBI36
NG_007568.1:g.10339_10344dup , LRG_145:g.10339_10344dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*642_*647dup (F12)	ENSP00000512476.1:n.*642_*647dup
ENST00000696193.1:c.*1346_*1351dup (F12)	ENSP00000512477.1:n.*1346_*1351dup
ENST00000696194.1:c.*566_*571dup (F12)	ENSP00000512478.1:n.*566_*571dup
ENST00000696195.1:n.3779_3784dup (F12)
ENST00000696200.1:n.1079_1084dup (F12)
ENST00000696201.1:c.976_981dup (F12)	ENSP00000512482.1:p.Pro327_Thr328insGlnPr...
ENST00000253496.4:c.976_981dup (F12) MANE Select	ENSP00000253496.3:p.Pro327_Thr328insGlnPr...
ENST00000253496.3:c.976_981dup (F12)	ENSP00000253496.3:p.Pro327_Thr328insGlnPr...
ENST00000502598.5:c.-45+707_-45+712dup (GRK6)	ENSP00000422873.1:n.-45+707_-45+712dup
ENST00000502854.5:n.235_240dup (F12)
ENST00000503736.1:n.348_353dup (F12)
ENST00000510358.5:n.235_240dup (F12)
NM_000505.3:c.976_981dup , LRG_145t1:c.976_981dup (F12)	NP_000496.2:p.Pro327_Thr328insGlnPro
XM_011534461.1:c.976_981dup (F12)	XP_011532763.1:p.Pro327_Thr328insGlnPro
XM_011534462.1:c.640_645dup (F12)	XP_011532764.1:p.Pro215_Thr216insGlnPro
XM_011534462.2:c.640_645dup (F12)	XP_011532764.1:p.Pro215_Thr216insGlnPro
XM_017009773.2:c.1416+7159_1416+7164dup (SLC34A1)	XP_016865262.1:n.1416+7159_1416+7164dup
NM_000505.4:c.976_981dup (F12) MANE Select	NP_000496.2:p.Pro327_Thr328insGlnPro