Canonical Allele Identifier: CA1219157686

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038444_200038446delinsCCT , CM000663.2:g.200038444_200038446delinsCCT	GRCh38
NC_000001.10:g.200007572_200007574delinsCCT , CM000663.1:g.200007572_200007574delinsCCT	GRCh37
NC_000001.9:g.198274195_198274197delinsCCT	NCBI36
NG_050913.1:g.15843_15845delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1214_65-1212delinsCCT MANE Select	ENSP00000356331.3:n.65-1214_65-1212delinsCCT
ENST00000236914.7:c.65-5330_65-5328delinsCCT	ENSP00000236914.3:n.65-5330_65-5328delinsCCT
ENST00000367362.7:c.65-1214_65-1212delinsCCT	ENSP00000356331.3:n.65-1214_65-1212delinsCCT
ENST00000447034.1:c.30-257_30-255delinsCCT
ENST00000474307.1:c.*419-5330_*419-5328delinsCCT	ENSP00000436776.1:n.*419-5330_*419-5328delinsCCT
NM_003822.4:c.65-5330_65-5328delinsCCT	NP_003813.1:n.65-5330_65-5328delinsCCT
NM_205860.2:c.65-1214_65-1212delinsCCT	NP_995582.1:n.65-1214_65-1212delinsCCT
XM_011509380.1:c.-56-1214_-56-1212delinsCCT	XP_011507682.1:n.-56-1214_-56-1212delinsCCT
XM_011509382.1:c.-14-5330_-14-5328delinsCCT	XP_011507684.1:n.-14-5330_-14-5328delinsCCT
XM_011509381.3:c.-385_-383delinsCCT	XP_011507683.1:n.-385_-383delinsCCT
NM_205860.3:c.65-1214_65-1212delinsCCT MANE Select	NP_995582.1:n.65-1214_65-1212delinsCCT
NM_003822.5:c.65-5330_65-5328delinsCCT	NP_003813.1:n.65-5330_65-5328delinsCCT