Canonical Allele Identifier: CA1396723571

Gene: NR1I2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807506_119807508delinsCAG , CM000665.2:g.119807506_119807508delinsCAG	GRCh38
NC_000003.11:g.119526353_119526355delinsCAG , CM000665.1:g.119526353_119526355delinsCAG	GRCh37
NC_000003.10:g.121009043_121009045delinsCAG	NCBI36
NG_011856.1:g.32023_32025delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+59_197+61delinsCAG MANE Select	ENSP00000377319.3:n.197+59_197+61delinsCAG
ENST00000466380.6:c.197+59_197+61delinsCAG	ENSP00000420297.2:n.197+59_197+61delinsCAG
ENST00000648112.1:c.*279_*281delinsCAG	ENSP00000497876.1:n.*279_*281delinsCAG
ENST00000337940.4:c.314+59_314+61delinsCAG	ENSP00000336528.4:n.314+59_314+61delinsCAG
ENST00000393716.6:c.197+59_197+61delinsCAG	ENSP00000377319.2:n.197+59_197+61delinsCAG
ENST00000466380.5:c.197+59_197+61delinsCAG	ENSP00000420297.1:n.197+59_197+61delinsCAG
ENST00000474090.1:n.485+59_485+61delinsCAG
NM_003889.3:c.197+59_197+61delinsCAG	NP_003880.3:n.197+59_197+61delinsCAG
NM_022002.2:c.314+59_314+61delinsCAG	NP_071285.1:n.314+59_314+61delinsCAG
NM_033013.2:c.197+59_197+61delinsCAG	NP_148934.1:n.197+59_197+61delinsCAG
NM_003889.4:c.197+59_197+61delinsCAG MANE Select	NP_003880.3:n.197+59_197+61delinsCAG
NM_022002.3:c.314+59_314+61delinsCAG	NP_071285.1:n.314+59_314+61delinsCAG
NM_033013.3:c.197+59_197+61delinsCAG	NP_148934.1:n.197+59_197+61delinsCAG