Canonical Allele Identifier: CA1084818745

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v3: 5-177404105-GGGC-G
• gnomAD v4: 5-177404105-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404106_177404108del , CM000667.2:g.177404106_177404108del	GRCh38
NC_000005.9:g.176831107_176831109del , CM000667.1:g.176831107_176831109del	GRCh37
NC_000005.8:g.176763713_176763715del	NCBI36
NG_007568.1:g.10469_10471del , LRG_145:g.10469_10471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-18_*685-16del (F12)	ENSP00000512476.1:n.*685-18_*685-16del
ENST00000696193.1:c.*1389-1_*1390del (F12)
ENST00000696194.1:c.*609-18_*609-16del (F12)	ENSP00000512478.1:n.*609-18_*609-16del
ENST00000696195.1:n.3822-18_3822-16del (F12)
ENST00000696200.1:n.1122-18_1122-16del (F12)
ENST00000696201.1:c.1019-18_1019-16del (F12)	ENSP00000512482.1:n.1019-18_1019-16del
ENST00000253496.4:c.1019-18_1019-16del (F12) MANE Select	ENSP00000253496.3:n.1019-18_1019-16del
ENST00000253496.3:c.1019-18_1019-16del (F12)	ENSP00000253496.3:n.1019-18_1019-16del
ENST00000502598.5:c.-45+580_-45+582del (GRK6)	ENSP00000422873.1:n.-45+580_-45+582del
ENST00000502854.5:n.278-18_278-16del (F12)
ENST00000503736.1:n.391-18_391-16del (F12)
ENST00000510358.5:n.365_367del (F12)
NM_000505.3:c.1019-18_1019-16del , LRG_145t1:c.1019-18_1019-16del (F12)	NP_000496.2:n.1019-18_1019-16del
XM_011534461.1:c.1019-18_1019-16del (F12)	XP_011532763.1:n.1019-18_1019-16del
XM_011534462.1:c.683-18_683-16del (F12)	XP_011532764.1:n.683-18_683-16del
XM_011534462.2:c.683-18_683-16del (F12)	XP_011532764.1:n.683-18_683-16del
XM_017009773.2:c.1416+7032_1416+7034del (SLC34A1)	XP_016865262.1:n.1416+7032_1416+7034del
NM_000505.4:c.1019-18_1019-16del (F12) MANE Select	NP_000496.2:n.1019-18_1019-16del