Canonical Allele Identifier: CA2676711328

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404175-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404176_177404177del , CM000667.2:g.177404176_177404177del	GRCh38
NC_000005.9:g.176831177_176831178del , CM000667.1:g.176831177_176831178del	GRCh37
NC_000005.8:g.176763783_176763784del	NCBI36
NG_007568.1:g.10400_10401del , LRG_145:g.10400_10401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+19_*684+20del (F12)	ENSP00000512476.1:n.*684+19_*684+20del
ENST00000696193.1:c.*1388+19_*1388+20del (F12)	ENSP00000512477.1:n.*1388+19_*1388+20del
ENST00000696194.1:c.*608+19_*608+20del (F12)	ENSP00000512478.1:n.*608+19_*608+20del
ENST00000696195.1:n.3821+19_3821+20del (F12)
ENST00000696200.1:n.1121+19_1121+20del (F12)
ENST00000696201.1:c.1018+19_1018+20del (F12)	ENSP00000512482.1:n.1018+19_1018+20del
ENST00000253496.4:c.1018+19_1018+20del (F12) MANE Select	ENSP00000253496.3:n.1018+19_1018+20del
ENST00000253496.3:c.1018+19_1018+20del (F12)	ENSP00000253496.3:n.1018+19_1018+20del
ENST00000502598.5:c.-45+650_-45+651del (GRK6)	ENSP00000422873.1:n.-45+650_-45+651del
ENST00000502854.5:n.277+19_277+20del (F12)
ENST00000503736.1:n.390+19_390+20del (F12)
ENST00000510358.5:n.296_297del (F12)
NM_000505.3:c.1018+19_1018+20del , LRG_145t1:c.1018+19_1018+20del (F12)	NP_000496.2:n.1018+19_1018+20del
XM_011534461.1:c.1018+19_1018+20del (F12)	XP_011532763.1:n.1018+19_1018+20del
XM_011534462.1:c.682+19_682+20del (F12)	XP_011532764.1:n.682+19_682+20del
XM_011534462.2:c.682+19_682+20del (F12)	XP_011532764.1:n.682+19_682+20del
XM_017009773.2:c.1416+7102_1416+7103del (SLC34A1)	XP_016865262.1:n.1416+7102_1416+7103del
NM_000505.4:c.1018+19_1018+20del (F12) MANE Select	NP_000496.2:n.1018+19_1018+20del