Canonical Allele Identifier: CA1084818756

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v3: 5-177404109-TGAGGAC-T
• gnomAD v4: 5-177404109-TGAGGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404111_177404116del , CM000667.2:g.177404111_177404116del	GRCh38
NC_000005.9:g.176831112_176831117del , CM000667.1:g.176831112_176831117del	GRCh37
NC_000005.8:g.176763718_176763723del	NCBI36
NG_007568.1:g.10462_10467del , LRG_145:g.10462_10467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-25_*685-20del (F12)	ENSP00000512476.1:n.*685-25_*685-20del
ENST00000696193.1:c.*1389-8_*1389-3del (F12)	ENSP00000512477.1:n.*1389-8_*1389-3del
ENST00000696194.1:c.*609-25_*609-20del (F12)	ENSP00000512478.1:n.*609-25_*609-20del
ENST00000696195.1:n.3822-25_3822-20del (F12)
ENST00000696200.1:n.1122-25_1122-20del (F12)
ENST00000696201.1:c.1019-25_1019-20del (F12)	ENSP00000512482.1:n.1019-25_1019-20del
ENST00000253496.4:c.1019-25_1019-20del (F12) MANE Select	ENSP00000253496.3:n.1019-25_1019-20del
ENST00000253496.3:c.1019-25_1019-20del (F12)	ENSP00000253496.3:n.1019-25_1019-20del
ENST00000502598.5:c.-45+585_-45+590del (GRK6)	ENSP00000422873.1:n.-45+585_-45+590del
ENST00000502854.5:n.278-25_278-20del (F12)
ENST00000503736.1:n.391-25_391-20del (F12)
ENST00000510358.5:n.358_363del (F12)
NM_000505.3:c.1019-25_1019-20del , LRG_145t1:c.1019-25_1019-20del (F12)	NP_000496.2:n.1019-25_1019-20del
XM_011534461.1:c.1019-25_1019-20del (F12)	XP_011532763.1:n.1019-25_1019-20del
XM_011534462.1:c.683-25_683-20del (F12)	XP_011532764.1:n.683-25_683-20del
XM_011534462.2:c.683-25_683-20del (F12)	XP_011532764.1:n.683-25_683-20del
XM_017009773.2:c.1416+7037_1416+7042del (SLC34A1)	XP_016865262.1:n.1416+7037_1416+7042del
NM_000505.4:c.1019-25_1019-20del (F12) MANE Select	NP_000496.2:n.1019-25_1019-20del