Canonical Allele Identifier: CA564899944

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1561640970
• gnomAD v2: 5-176831185-C-CG
• MyVariant Identifiers: chr5:g.176831185_176831186insG (hg19) ; chr5:g.177404184_177404185insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404184_177404185insG , CM000667.2:g.177404184_177404185insG	GRCh38
NC_000005.9:g.176831185_176831186insG , CM000667.1:g.176831185_176831186insG	GRCh37
NC_000005.8:g.176763791_176763792insG	NCBI36
NG_007568.1:g.10392_10393insC , LRG_145:g.10392_10393insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*684+11_*684+12insC (F12)	ENSP00000512476.1:n.*684+11_*684+12insC
ENST00000696193.1:c.*1388+11_*1388+12insC (F12)	ENSP00000512477.1:n.*1388+11_*1388+12insC
ENST00000696194.1:c.*608+11_*608+12insC (F12)	ENSP00000512478.1:n.*608+11_*608+12insC
ENST00000696195.1:n.3821+11_3821+12insC (F12)
ENST00000696200.1:n.1121+11_1121+12insC (F12)
ENST00000696201.1:c.1018+11_1018+12insC (F12)	ENSP00000512482.1:n.1018+11_1018+12insC
ENST00000253496.4:c.1018+11_1018+12insC (F12) MANE Select	ENSP00000253496.3:n.1018+11_1018+12insC
ENST00000253496.3:c.1018+11_1018+12insC (F12)	ENSP00000253496.3:n.1018+11_1018+12insC
ENST00000502598.5:c.-45+658_-45+659insG (GRK6)	ENSP00000422873.1:n.-45+658_-45+659insG
ENST00000502854.5:n.277+11_277+12insC (F12)
ENST00000503736.1:n.390+11_390+12insC (F12)
ENST00000510358.5:n.288_289insC (F12)
NM_000505.3:c.1018+11_1018+12insC , LRG_145t1:c.1018+11_1018+12insC (F12)	NP_000496.2:n.1018+11_1018+12insC
XM_011534461.1:c.1018+11_1018+12insC (F12)	XP_011532763.1:n.1018+11_1018+12insC
XM_011534462.1:c.682+11_682+12insC (F12)	XP_011532764.1:n.682+11_682+12insC
XM_011534462.2:c.682+11_682+12insC (F12)	XP_011532764.1:n.682+11_682+12insC
XM_017009773.2:c.1416+7110_1416+7111insG (SLC34A1)	XP_016865262.1:n.1416+7110_1416+7111insG
NM_000505.4:c.1018+11_1018+12insC (F12) MANE Select	NP_000496.2:n.1018+11_1018+12insC