Canonical Allele Identifier: CA1084818791

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v3: 5-177404127-GGCCGGC-G
• gnomAD v4: 5-177404127-GGCCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404128_177404133del , CM000667.2:g.177404128_177404133del	GRCh38
NC_000005.9:g.176831129_176831134del , CM000667.1:g.176831129_176831134del	GRCh37
NC_000005.8:g.176763735_176763740del	NCBI36
NG_007568.1:g.10444_10449del , LRG_145:g.10444_10449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*685-43_*685-38del (F12)	ENSP00000512476.1:n.*685-43_*685-38del
ENST00000696193.1:c.*1389-26_*1389-21del (F12)	ENSP00000512477.1:n.*1389-26_*1389-21del
ENST00000696194.1:c.*609-43_*609-38del (F12)	ENSP00000512478.1:n.*609-43_*609-38del
ENST00000696195.1:n.3822-43_3822-38del (F12)
ENST00000696200.1:n.1122-43_1122-38del (F12)
ENST00000696201.1:c.1019-43_1019-38del (F12)	ENSP00000512482.1:n.1019-43_1019-38del
ENST00000253496.4:c.1019-43_1019-38del (F12) MANE Select	ENSP00000253496.3:n.1019-43_1019-38del
ENST00000253496.3:c.1019-43_1019-38del (F12)	ENSP00000253496.3:n.1019-43_1019-38del
ENST00000502598.5:c.-45+602_-45+607del (GRK6)	ENSP00000422873.1:n.-45+602_-45+607del
ENST00000502854.5:n.278-43_278-38del (F12)
ENST00000503736.1:n.391-43_391-38del (F12)
ENST00000510358.5:n.340_345del (F12)
NM_000505.3:c.1019-43_1019-38del , LRG_145t1:c.1019-43_1019-38del (F12)	NP_000496.2:n.1019-43_1019-38del
XM_011534461.1:c.1019-43_1019-38del (F12)	XP_011532763.1:n.1019-43_1019-38del
XM_011534462.1:c.683-43_683-38del (F12)	XP_011532764.1:n.683-43_683-38del
XM_011534462.2:c.683-43_683-38del (F12)	XP_011532764.1:n.683-43_683-38del
XM_017009773.2:c.1416+7054_1416+7059del (SLC34A1)	XP_016865262.1:n.1416+7054_1416+7059del
NM_000505.4:c.1019-43_1019-38del (F12) MANE Select	NP_000496.2:n.1019-43_1019-38del