Canonical Allele Identifier: CA1219157641

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038366_200038408delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT , CM000663.2:g.200038366_200038408delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	GRCh38
NC_000001.10:g.200007494_200007536delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT , CM000663.1:g.200007494_200007536delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	GRCh37
NC_000001.9:g.198274117_198274159delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	NCBI36
NG_050913.1:g.15765_15807delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT MANE Select	ENSP00000356331.3:n.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGA...
ENST00000236914.7:c.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	ENSP00000236914.3:n.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGA...
ENST00000367362.7:c.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	ENSP00000356331.3:n.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGA...
ENST00000447034.1:c.30-335_30-293delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT
ENST00000474307.1:c.*419-5408_*419-5366delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	ENSP00000436776.1:n.*419-5408_*419-5366delinsACTAGGGAGCAGACTG...
NM_003822.4:c.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	NP_003813.1:n.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGAAAGAGG...
NM_205860.2:c.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	NP_995582.1:n.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGG...
XM_011509380.1:c.-56-1292_-56-1250delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	XP_011507682.1:n.-56-1292_-56-1250delinsACTAGGGAGCAGACTGGGGAA...
XM_011509382.1:c.-14-5408_-14-5366delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	XP_011507684.1:n.-14-5408_-14-5366delinsACTAGGGAGCAGACTGGGGAA...
XM_011509381.3:c.-463_-421delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	XP_011507683.1:n.-463_-421delinsACTAGGGAGCAGACTGGGGAAAGAGGAGT...
NM_205860.3:c.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT MANE Select	NP_995582.1:n.65-1292_65-1250delinsACTAGGGAGCAGACTGGGGAAAGAGG...
NM_003822.5:c.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGAAAGAGGAGTCGCTGCCCCTTCCT	NP_003813.1:n.65-5408_65-5366delinsACTAGGGAGCAGACTGGGGAAAGAGG...