Canonical Allele Identifier: CA2667141742

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807548-CTGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807549_119807553del , CM000665.2:g.119807549_119807553del	GRCh38
NC_000003.11:g.119526396_119526400del , CM000665.1:g.119526396_119526400del	GRCh37
NC_000003.10:g.121009086_121009090del	NCBI36
NG_011856.1:g.32066_32070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+102_197+106del MANE Select	ENSP00000377319.3:n.197+102_197+106del
ENST00000466380.6:c.197+102_197+106del	ENSP00000420297.2:n.197+102_197+106del
ENST00000648112.1:c.*322_*326del	ENSP00000497876.1:n.*322_*326del
ENST00000337940.4:c.314+102_314+106del	ENSP00000336528.4:n.314+102_314+106del
ENST00000393716.6:c.197+102_197+106del	ENSP00000377319.2:n.197+102_197+106del
ENST00000466380.5:c.197+102_197+106del	ENSP00000420297.1:n.197+102_197+106del
ENST00000474090.1:n.485+102_485+106del
NM_003889.3:c.197+102_197+106del	NP_003880.3:n.197+102_197+106del
NM_022002.2:c.314+102_314+106del	NP_071285.1:n.314+102_314+106del
NM_033013.2:c.197+102_197+106del	NP_148934.1:n.197+102_197+106del
NM_003889.4:c.197+102_197+106del MANE Select	NP_003880.3:n.197+102_197+106del
NM_022002.3:c.314+102_314+106del	NP_071285.1:n.314+102_314+106del
NM_033013.3:c.197+102_197+106del	NP_148934.1:n.197+102_197+106del