Canonical Allele Identifier: CA2676713833

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177406110-C-CAGACCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406112_177406113insACCCTGAG , CM000667.2:g.177406112_177406113insACCCTGAG	GRCh38
NC_000005.9:g.176833113_176833114insACCCTGAG , CM000667.1:g.176833113_176833114insACCCTGAG	GRCh37
NC_000005.8:g.176765719_176765720insACCCTGAG	NCBI36
NG_007568.1:g.8466_8467insCAGGGTCT , LRG_145:g.8466_8467insCAGGGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116-50_116-49insCAGGGTCT (F12)	ENSP00000512476.1:n.116-50_116-49insCAGGGTCT
ENST00000696193.1:c.134_135insCAGGGTCT (F12)	ENSP00000512477.1:p.Ser46ArgfsTer3
ENST00000696194.1:c.116-50_116-49insCAGGGTCT (F12)	ENSP00000512478.1:n.116-50_116-49insCAGGGTCT
ENST00000696195.1:n.2423_2424insCAGGGTCT (F12)
ENST00000696200.1:n.219-50_219-49insCAGGGTCT (F12)
ENST00000696201.1:c.116-50_116-49insCAGGGTCT (F12)	ENSP00000512482.1:n.116-50_116-49insCAGGGTCT
ENST00000253496.4:c.116-50_116-49insCAGGGTCT (F12) MANE Select	ENSP00000253496.3:n.116-50_116-49insCAGGGTCT
ENST00000253496.3:c.116-50_116-49insCAGGGTCT (F12)	ENSP00000253496.3:n.116-50_116-49insCAGGGTCT
ENST00000502598.5:c.-45+2586_-45+2587insACCCTGAG (GRK6)	ENSP00000422873.1:n.-45+2586_-45+2587insACCCTGAG
ENST00000506296.5:c.-45+1555_-45+1556insACCCTGAG (GRK6)	ENSP00000421055.1:n.-45+1555_-45+1556insACCCTGAG
NM_000505.3:c.116-50_116-49insCAGGGTCT , LRG_145t1:c.116-50_116-49insCAGGGTCT (F12)	NP_000496.2:n.116-50_116-49insCAGGGTCT
XM_011534461.1:c.116-50_116-49insCAGGGTCT (F12)	XP_011532763.1:n.116-50_116-49insCAGGGTCT
XM_017009773.2:c.1417-5652_1417-5651insACCCTGAG (SLC34A1)	XP_016865262.1:n.1417-5652_1417-5651insACCCTGAG
NM_000505.4:c.116-50_116-49insCAGGGTCT (F12) MANE Select	NP_000496.2:n.116-50_116-49insCAGGGTCT