Canonical Allele Identifier: CA2676711335
Gene: F12 HGNC NCBI
GRK6 HGNC NCBI
SLC34A1 HGNC NCBI

Linked Data

gnomAD v4: 5-177404178-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404178_177404179insG , CM000667.2:g.177404178_177404179insG GRCh38
NC_000005.9:g.176831179_176831180insG , CM000667.1:g.176831179_176831180insG GRCh37
NC_000005.8:g.176763785_176763786insG NCBI36
NG_007568.1:g.10398_10399insC , LRG_145:g.10398_10399insC

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*684+17_*684+18insC (F12) ENSP00000512476.1:n.*684+17_*684+18insC
ENST00000696193.1:c.*1388+17_*1388+18insC (F12) ENSP00000512477.1:n.*1388+17_*1388+18insC...
ENST00000696194.1:c.*608+17_*608+18insC (F12) ENSP00000512478.1:n.*608+17_*608+18insC
ENST00000696195.1:n.3821+17_3821+18insC (F12)
ENST00000696200.1:n.1121+17_1121+18insC (F12)
ENST00000696201.1:c.1018+17_1018+18insC (F12) ENSP00000512482.1:n.1018+17_1018+18insC
ENST00000253496.4:c.1018+17_1018+18insC (F12) MANE Select ENSP00000253496.3:n.1018+17_1018+18insC
ENST00000253496.3:c.1018+17_1018+18insC (F12) ENSP00000253496.3:n.1018+17_1018+18insC
ENST00000502598.5:c.-45+652_-45+653insG (GRK6) ENSP00000422873.1:n.-45+652_-45+653insG
ENST00000502854.5:n.277+17_277+18insC (F12)
ENST00000503736.1:n.390+17_390+18insC (F12)
ENST00000510358.5:n.294_295insC (F12)
NM_000505.3:c.1018+17_1018+18insC , LRG_145t1:c.1018+17_1018+18insC (F12) NP_000496.2:n.1018+17_1018+18insC
XM_011534461.1:c.1018+17_1018+18insC (F12) XP_011532763.1:n.1018+17_1018+18insC
XM_011534462.1:c.682+17_682+18insC (F12) XP_011532764.1:n.682+17_682+18insC
XM_011534462.2:c.682+17_682+18insC (F12) XP_011532764.1:n.682+17_682+18insC
XM_017009773.2:c.1416+7104_1416+7105insG (SLC34A1) XP_016865262.1:n.1416+7104_1416+7105insG
NM_000505.4:c.1018+17_1018+18insC (F12) MANE Select NP_000496.2:n.1018+17_1018+18insC
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