Canonical Allele Identifier: CA3038604601

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404135_177404136insCCGAA , CM000667.2:g.177404135_177404136insCCGAA	GRCh38
NC_000005.9:g.176831136_176831137insCCGAA , CM000667.1:g.176831136_176831137insCCGAA	GRCh37
NC_000005.8:g.176763742_176763743insCCGAA	NCBI36
NG_007568.1:g.10441_10442insTTCGG , LRG_145:g.10441_10442insTTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-46_*685-45insTTCGG (F12)	ENSP00000512476.1:n.*685-46_*685-45insTTCGG
ENST00000696193.1:c.*1389-29_*1389-28insTTCGG (F12)	ENSP00000512477.1:n.*1389-29_*1389-28insTTCGG
ENST00000696194.1:c.*609-46_*609-45insTTCGG (F12)	ENSP00000512478.1:n.*609-46_*609-45insTTCGG
ENST00000696195.1:n.3822-46_3822-45insTTCGG (F12)
ENST00000696200.1:n.1122-46_1122-45insTTCGG (F12)
ENST00000696201.1:c.1019-46_1019-45insTTCGG (F12)	ENSP00000512482.1:n.1019-46_1019-45insTTCGG
ENST00000253496.4:c.1019-46_1019-45insTTCGG (F12) MANE Select	ENSP00000253496.3:n.1019-46_1019-45insTTCGG
ENST00000253496.3:c.1019-46_1019-45insTTCGG (F12)	ENSP00000253496.3:n.1019-46_1019-45insTTCGG
ENST00000502598.5:c.-45+609_-45+610insCCGAA (GRK6)	ENSP00000422873.1:n.-45+609_-45+610insCCGAA
ENST00000502854.5:n.278-46_278-45insTTCGG (F12)
ENST00000503736.1:n.391-46_391-45insTTCGG (F12)
ENST00000510358.5:n.337_338insTTCGG (F12)
NM_000505.3:c.1019-46_1019-45insTTCGG , LRG_145t1:c.1019-46_1019-45insTTCGG (F12)	NP_000496.2:n.1019-46_1019-45insTTCGG
XM_011534461.1:c.1019-46_1019-45insTTCGG (F12)	XP_011532763.1:n.1019-46_1019-45insTTCGG
XM_011534462.1:c.683-46_683-45insTTCGG (F12)	XP_011532764.1:n.683-46_683-45insTTCGG
XM_011534462.2:c.683-46_683-45insTTCGG (F12)	XP_011532764.1:n.683-46_683-45insTTCGG
XM_017009773.2:c.1416+7061_1416+7062insCCGAA (SLC34A1)	XP_016865262.1:n.1416+7061_1416+7062insCCGAA
NM_000505.4:c.1019-46_1019-45insTTCGG (F12) MANE Select	NP_000496.2:n.1019-46_1019-45insTTCGG