Canonical Allele Identifier: CA2676711970

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404699-C-CAGGAGAGCCCAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404699_177404700insAGGAGAGCCCAGCCT , CM000667.2:g.177404699_177404700insAGGAGAGCCCAGCCT	GRCh38
NC_000005.9:g.176831700_176831701insAGGAGAGCCCAGCCT , CM000667.1:g.176831700_176831701insAGGAGAGCCCAGCCT	GRCh37
NC_000005.8:g.176764306_176764307insAGGAGAGCCCAGCCT	NCBI36
NG_007568.1:g.9877_9878insAGGCTGGGCTCTCCT , LRG_145:g.9877_9878insAGGCTGGGCTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*301-36_*301-35insAGGCTGGGCTCTCCT (F12)	ENSP00000512476.1:n.*301-36_*301-35insAGGCTGGGCTCTCCT
ENST00000696193.1:c.*969_*970insAGGCTGGGCTCTCCT (F12)	ENSP00000512477.1:n.*969_*970insAGGCTGGGCTCTCCT
ENST00000696194.1:c.*225-36_*225-35insAGGCTGGGCTCTCCT (F12)	ENSP00000512478.1:n.*225-36_*225-35insAGGCTGGGCTCTCCT
ENST00000696195.1:n.3402_3403insAGGCTGGGCTCTCCT (F12)
ENST00000696200.1:n.738-36_738-35insAGGCTGGGCTCTCCT (F12)
ENST00000696201.1:c.635-36_635-35insAGGCTGGGCTCTCCT (F12)	ENSP00000512482.1:n.635-36_635-35insAGGCTGGGCTCTCCT
ENST00000253496.4:c.635-36_635-35insAGGCTGGGCTCTCCT (F12) MANE Select	ENSP00000253496.3:n.635-36_635-35insAGGCTGGGCTCTCCT
ENST00000253496.3:c.635-36_635-35insAGGCTGGGCTCTCCT (F12)	ENSP00000253496.3:n.635-36_635-35insAGGCTGGGCTCTCCT
ENST00000502598.5:c.-45+1173_-45+1174insAGGAGAGCCCAGCCT (GRK6)	ENSP00000422873.1:n.-45+1173_-45+1174insAGGAGAGCCCAGCCT
ENST00000503736.1:n.172+110_172+111insAGGCTGGGCTCTCCT (F12)
ENST00000506296.5:c.-45+142_-45+143insAGGAGAGCCCAGCCT (GRK6)	ENSP00000421055.1:n.-45+142_-45+143insAGGAGAGCCCAGCCT
NM_000505.3:c.635-36_635-35insAGGCTGGGCTCTCCT , LRG_145t1:c.635-36_635-35insAGGCTGGGCTCTCCT (F12)	NP_000496.2:n.635-36_635-35insAGGCTGGGCTCTCCT
XM_011534461.1:c.635-36_635-35insAGGCTGGGCTCTCCT (F12)	XP_011532763.1:n.635-36_635-35insAGGCTGGGCTCTCCT
XM_011534462.1:c.299-36_299-35insAGGCTGGGCTCTCCT (F12)	XP_011532764.1:n.299-36_299-35insAGGCTGGGCTCTCCT
XM_011534462.2:c.299-36_299-35insAGGCTGGGCTCTCCT (F12)	XP_011532764.1:n.299-36_299-35insAGGCTGGGCTCTCCT
XM_017009773.2:c.1417-7065_1417-7064insAGGAGAGCCCAGCCT (SLC34A1)	XP_016865262.1:n.1417-7065_1417-7064insAGGAGAGCCCAGCCT
NM_000505.4:c.635-36_635-35insAGGCTGGGCTCTCCT (F12) MANE Select	NP_000496.2:n.635-36_635-35insAGGCTGGGCTCTCCT