Canonical Allele Identifier: CA2667141707

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807520-G-GTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807520_119807521insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA , CM000665.2:g.119807520_119807521insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	GRCh38
NC_000003.11:g.119526367_119526368insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA , CM000665.1:g.119526367_119526368insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	GRCh37
NC_000003.10:g.121009057_121009058insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NCBI36
NG_011856.1:g.32037_32038insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA MANE Select	ENSP00000377319.3:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGA...
ENST00000466380.6:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	ENSP00000420297.2:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGA...
ENST00000648112.1:c.*293_*294insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	ENSP00000497876.1:n.*293_*294insTGGTTTTCTCATTTCTAGTCCAAGAGGCC...
ENST00000337940.4:c.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	ENSP00000336528.4:n.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGA...
ENST00000393716.6:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	ENSP00000377319.2:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGA...
ENST00000466380.5:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	ENSP00000420297.1:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGA...
ENST00000474090.1:n.485+73_485+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA
NM_003889.3:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NP_003880.3:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...
NM_022002.2:c.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NP_071285.1:n.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...
NM_033013.2:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NP_148934.1:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...
NM_003889.4:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA MANE Select	NP_003880.3:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...
NM_022002.3:c.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NP_071285.1:n.314+73_314+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...
NM_033013.3:c.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCAGAAGCAA	NP_148934.1:n.197+73_197+74insTGGTTTTCTCATTTCTAGTCCAAGAGGCCCA...