Canonical Allele Identifier: CA1219157820
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038731_200038734delinsCCTT , CM000663.2:g.200038731_200038734delinsCCTT GRCh38
NC_000001.10:g.200007859_200007862delinsCCTT , CM000663.1:g.200007859_200007862delinsCCTT GRCh37
NC_000001.9:g.198274482_198274485delinsCCTT NCBI36
NG_050913.1:g.16130_16133delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367362.8:c.65-927_65-924delinsCCTT MANE Select ENSP00000356331.3:n.65-927_65-924delinsCCTT
ENST00000236914.7:c.65-5043_65-5040delinsCCTT ENSP00000236914.3:n.65-5043_65-5040delinsCCTT
ENST00000367362.7:c.65-927_65-924delinsCCTT ENSP00000356331.3:n.65-927_65-924delinsCCTT
ENST00000447034.1:c.60_63delinsCCTT
ENST00000474307.1:c.*419-5043_*419-5040delinsCCTT ENSP00000436776.1:n.*419-5043_*419-5040delinsCCTT
NM_003822.4:c.65-5043_65-5040delinsCCTT NP_003813.1:n.65-5043_65-5040delinsCCTT
NM_205860.2:c.65-927_65-924delinsCCTT NP_995582.1:n.65-927_65-924delinsCCTT
XM_011509380.1:c.-56-927_-56-924delinsCCTT XP_011507682.1:n.-56-927_-56-924delinsCCTT
XM_011509381.1:c.-98_-95delinsCCTT XP_011507683.1:n.-98_-95delinsCCTT
XM_011509382.1:c.-14-5043_-14-5040delinsCCTT XP_011507684.1:n.-14-5043_-14-5040delinsCCTT
XM_011509381.3:c.-98_-95delinsCCTT XP_011507683.1:n.-98_-95delinsCCTT
NM_205860.3:c.65-927_65-924delinsCCTT MANE Select NP_995582.1:n.65-927_65-924delinsCCTT
NM_003822.5:c.65-5043_65-5040delinsCCTT NP_003813.1:n.65-5043_65-5040delinsCCTT