Canonical Allele Identifier: CA1396722593

Gene: NR1I2

Linked Data

• dbSNP Id: rs2055076971
• gnomAD v3: 3-119801293-AG-A
• gnomAD v4: 3-119801293-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119801294del , CM000665.2:g.119801294del	GRCh38
NC_000003.11:g.119520141del , CM000665.1:g.119520141del	GRCh37
NC_000003.10:g.121002831del	NCBI36
NG_011856.1:g.25811del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.-22-5935del MANE Select	ENSP00000377319.3:n.-22-5935del
ENST00000466380.6:c.-22-5935del	ENSP00000420297.2:n.-22-5935del
ENST00000648112.1:c.*2-5935del	ENSP00000497876.1:n.*2-5935del
ENST00000337940.4:c.96-5935del	ENSP00000336528.4:n.96-5935del
ENST00000393716.6:c.-22-5935del	ENSP00000377319.2:n.-22-5935del
ENST00000466380.5:c.-22-5935del	ENSP00000420297.1:n.-22-5935del
ENST00000474090.1:n.267-5935del
NM_003889.3:c.-22-5935del	NP_003880.3:n.-22-5935del
NM_022002.2:c.96-5935del	NP_071285.1:n.96-5935del
NM_033013.2:c.-22-5935del	NP_148934.1:n.-22-5935del
NM_003889.4:c.-22-5935del MANE Select	NP_003880.3:n.-22-5935del
NM_022002.3:c.96-5935del	NP_071285.1:n.96-5935del
NM_033013.3:c.-22-5935del	NP_148934.1:n.-22-5935del