Canonical Allele Identifier: CA3581309

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs35966430
• ExAC: 5:176831177 TCC / T
• gnomAD v2: 5-176831177-TCC-T
• gnomAD v3: 5-177404176-TCC-T
• gnomAD v4: 5-177404176-TCC-T
• MyVariant Identifiers: chr5:g.176831178_176831179del (hg19) ; chr5:g.177404177_177404178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404184_177404185del , CM000667.2:g.177404184_177404185del	GRCh38
NC_000005.9:g.176831185_176831186del , CM000667.1:g.176831185_176831186del	GRCh37
NC_000005.8:g.176763791_176763792del	NCBI36
NG_007568.1:g.10399_10400del , LRG_145:g.10399_10400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+18_*684+19del (F12)	ENSP00000512476.1:n.*684+18_*684+19del
ENST00000696193.1:c.*1388+18_*1388+19del (F12)	ENSP00000512477.1:n.*1388+18_*1388+19del
ENST00000696194.1:c.*608+18_*608+19del (F12)	ENSP00000512478.1:n.*608+18_*608+19del
ENST00000696195.1:n.3821+18_3821+19del (F12)
ENST00000696200.1:n.1121+18_1121+19del (F12)
ENST00000696201.1:c.1018+18_1018+19del (F12)	ENSP00000512482.1:n.1018+18_1018+19del
ENST00000253496.4:c.1018+18_1018+19del (F12) MANE Select	ENSP00000253496.3:n.1018+18_1018+19del
ENST00000253496.3:c.1018+18_1018+19del (F12)	ENSP00000253496.3:n.1018+18_1018+19del
ENST00000502598.5:c.-45+658_-45+659del (GRK6)	ENSP00000422873.1:n.-45+658_-45+659del
ENST00000502854.5:n.277+18_277+19del (F12)
ENST00000503736.1:n.390+18_390+19del (F12)
ENST00000510358.5:n.295_296del (F12)
NM_000505.3:c.1018+18_1018+19del , LRG_145t1:c.1018+18_1018+19del (F12)	NP_000496.2:n.1018+18_1018+19del
XM_011534461.1:c.1018+18_1018+19del (F12)	XP_011532763.1:n.1018+18_1018+19del
XM_011534462.1:c.682+18_682+19del (F12)	XP_011532764.1:n.682+18_682+19del
XM_011534462.2:c.682+18_682+19del (F12)	XP_011532764.1:n.682+18_682+19del
XM_017009773.2:c.1416+7110_1416+7111del (SLC34A1)	XP_016865262.1:n.1416+7110_1416+7111del
NM_000505.4:c.1018+18_1018+19del (F12) MANE Select	NP_000496.2:n.1018+18_1018+19del