Canonical Allele Identifier: CA1219157724

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038490_200038491delinsCG , CM000663.2:g.200038490_200038491delinsCG	GRCh38
NC_000001.10:g.200007618_200007619delinsCG , CM000663.1:g.200007618_200007619delinsCG	GRCh37
NC_000001.9:g.198274241_198274242delinsCG	NCBI36
NG_050913.1:g.15889_15890delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1168_65-1167delinsCG MANE Select	ENSP00000356331.3:n.65-1168_65-1167delinsCG
ENST00000236914.7:c.65-5284_65-5283delinsCG	ENSP00000236914.3:n.65-5284_65-5283delinsCG
ENST00000367362.7:c.65-1168_65-1167delinsCG	ENSP00000356331.3:n.65-1168_65-1167delinsCG
ENST00000447034.1:c.30-211_30-210delinsCG
ENST00000474307.1:c.*419-5284_*419-5283delinsCG	ENSP00000436776.1:n.*419-5284_*419-5283delinsCG
NM_003822.4:c.65-5284_65-5283delinsCG	NP_003813.1:n.65-5284_65-5283delinsCG
NM_205860.2:c.65-1168_65-1167delinsCG	NP_995582.1:n.65-1168_65-1167delinsCG
XM_011509380.1:c.-56-1168_-56-1167delinsCG	XP_011507682.1:n.-56-1168_-56-1167delinsCG
XM_011509382.1:c.-14-5284_-14-5283delinsCG	XP_011507684.1:n.-14-5284_-14-5283delinsCG
XM_011509381.3:c.-339_-338delinsCG	XP_011507683.1:n.-339_-338delinsCG
NM_205860.3:c.65-1168_65-1167delinsCG MANE Select	NP_995582.1:n.65-1168_65-1167delinsCG
NM_003822.5:c.65-5284_65-5283delinsCG	NP_003813.1:n.65-5284_65-5283delinsCG