Canonical Allele Identifier: CA2676711272

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404130-C-CATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404130_177404131insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA , CM000667.2:g.177404130_177404131insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA	GRCh38
NC_000005.9:g.176831131_176831132insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA , CM000667.1:g.176831131_176831132insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA	GRCh37
NC_000005.8:g.176763737_176763738insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA	NCBI36
NG_007568.1:g.10446_10447insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT , LRG_145:g.10446_10447insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-41_*685-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	ENSP00000512476.1:n.*685-41_*685-40insTTGGCTGCCCAGGGAGCCCCCTT...
ENST00000696193.1:c.*1389-24_*1389-23insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	ENSP00000512477.1:n.*1389-24_*1389-23insTTGGCTGCCCAGGGAGCCCCC...
ENST00000696194.1:c.*609-41_*609-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	ENSP00000512478.1:n.*609-41_*609-40insTTGGCTGCCCAGGGAGCCCCCTT...
ENST00000696195.1:n.3822-41_3822-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)
ENST00000696200.1:n.1122-41_1122-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)
ENST00000696201.1:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	ENSP00000512482.1:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTT...
ENST00000253496.4:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12) MANE Select	ENSP00000253496.3:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTT...
ENST00000253496.3:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	ENSP00000253496.3:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTT...
ENST00000502598.5:c.-45+604_-45+605insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA (GRK6)	ENSP00000422873.1:n.-45+604_-45+605insATCATAGCAGCTTGCCTTGGTGT...
ENST00000502854.5:n.278-41_278-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)
ENST00000503736.1:n.391-41_391-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)
ENST00000510358.5:n.342_343insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)
NM_000505.3:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT , LRG_145t1:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	NP_000496.2:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCT...
XM_011534461.1:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	XP_011532763.1:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCT...
XM_011534462.1:c.683-41_683-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	XP_011532764.1:n.683-41_683-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCC...
XM_011534462.2:c.683-41_683-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12)	XP_011532764.1:n.683-41_683-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCC...
XM_017009773.2:c.1416+7056_1416+7057insATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAA (SLC34A1)	XP_016865262.1:n.1416+7056_1416+7057insATCATAGCAGCTTGCCTTGGTG...
NM_000505.4:c.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAGACACCAAGGCAAGCTGCTATGAT (F12) MANE Select	NP_000496.2:n.1019-41_1019-40insTTGGCTGCCCAGGGAGCCCCCTTTCTCCT...