Canonical Allele Identifier: CA564899916

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1324264112
• gnomAD v2: 5-176831095-TG-T
• MyVariant Identifiers: chr5:g.176831096del (hg19) ; chr5:g.177404095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404096del , CM000667.2:g.177404096del	GRCh38
NC_000005.9:g.176831097del , CM000667.1:g.176831097del	GRCh37
NC_000005.8:g.176763703del	NCBI36
NG_007568.1:g.10482del , LRG_145:g.10482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-5del (F12)	ENSP00000512476.1:n.*685-5del
ENST00000696193.1:c.*1401del (F12)	ENSP00000512477.1:n.*1401del
ENST00000696194.1:c.*609-5del (F12)	ENSP00000512478.1:n.*609-5del
ENST00000696195.1:n.3822-5del (F12)
ENST00000696200.1:n.1122-5del (F12)
ENST00000696201.1:c.1019-5del (F12)	ENSP00000512482.1:n.1019-5del
ENST00000253496.4:c.1019-5del (F12) MANE Select	ENSP00000253496.3:n.1019-5del
ENST00000253496.3:c.1019-5del (F12)	ENSP00000253496.3:n.1019-5del
ENST00000502598.5:c.-45+570del (GRK6)	ENSP00000422873.1:n.-45+570del
ENST00000502854.5:n.278-5del (F12)
ENST00000503736.1:n.391-5del (F12)
ENST00000510358.5:n.378del (F12)
NM_000505.3:c.1019-5del , LRG_145t1:c.1019-5del (F12)	NP_000496.2:n.1019-5del
XM_011534461.1:c.1019-5del (F12)	XP_011532763.1:n.1019-5del
XM_011534462.1:c.683-5del (F12)	XP_011532764.1:n.683-5del
XM_011534462.2:c.683-5del (F12)	XP_011532764.1:n.683-5del
XM_017009773.2:c.1416+7022del (SLC34A1)	XP_016865262.1:n.1416+7022del
NM_000505.4:c.1019-5del (F12) MANE Select	NP_000496.2:n.1019-5del