Canonical Allele Identifier: CA2667141703

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807518-T-TTTTTCATTCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807519_119807520insTTTCATTCTCT , CM000665.2:g.119807519_119807520insTTTCATTCTCT	GRCh38
NC_000003.11:g.119526366_119526367insTTTCATTCTCT , CM000665.1:g.119526366_119526367insTTTCATTCTCT	GRCh37
NC_000003.10:g.121009056_121009057insTTTCATTCTCT	NCBI36
NG_011856.1:g.32036_32037insTTTCATTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+72_197+73insTTTCATTCTCT MANE Select	ENSP00000377319.3:n.197+72_197+73insTTTCATTCTCT
ENST00000466380.6:c.197+72_197+73insTTTCATTCTCT	ENSP00000420297.2:n.197+72_197+73insTTTCATTCTCT
ENST00000648112.1:c.*292_*293insTTTCATTCTCT	ENSP00000497876.1:n.*292_*293insTTTCATTCTCT
ENST00000337940.4:c.314+72_314+73insTTTCATTCTCT	ENSP00000336528.4:n.314+72_314+73insTTTCATTCTCT
ENST00000393716.6:c.197+72_197+73insTTTCATTCTCT	ENSP00000377319.2:n.197+72_197+73insTTTCATTCTCT
ENST00000466380.5:c.197+72_197+73insTTTCATTCTCT	ENSP00000420297.1:n.197+72_197+73insTTTCATTCTCT
ENST00000474090.1:n.485+72_485+73insTTTCATTCTCT
NM_003889.3:c.197+72_197+73insTTTCATTCTCT	NP_003880.3:n.197+72_197+73insTTTCATTCTCT
NM_022002.2:c.314+72_314+73insTTTCATTCTCT	NP_071285.1:n.314+72_314+73insTTTCATTCTCT
NM_033013.2:c.197+72_197+73insTTTCATTCTCT	NP_148934.1:n.197+72_197+73insTTTCATTCTCT
NM_003889.4:c.197+72_197+73insTTTCATTCTCT MANE Select	NP_003880.3:n.197+72_197+73insTTTCATTCTCT
NM_022002.3:c.314+72_314+73insTTTCATTCTCT	NP_071285.1:n.314+72_314+73insTTTCATTCTCT
NM_033013.3:c.197+72_197+73insTTTCATTCTCT	NP_148934.1:n.197+72_197+73insTTTCATTCTCT