Canonical Allele Identifier: CA1219157840

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038769_200038782delinsAGCTGTAAGACCCG , CM000663.2:g.200038769_200038782delinsAGCTGTAAGACCCG	GRCh38
NC_000001.10:g.200007897_200007910delinsAGCTGTAAGACCCG , CM000663.1:g.200007897_200007910delinsAGCTGTAAGACCCG	GRCh37
NC_000001.9:g.198274520_198274533delinsAGCTGTAAGACCCG	NCBI36
NG_050913.1:g.16168_16181delinsAGCTGTAAGACCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-889_65-876delinsAGCTGTAAGACCCG MANE Select	ENSP00000356331.3:n.65-889_65-876delinsAGCTGTAAGACCCG
ENST00000236914.7:c.65-5005_65-4992delinsAGCTGTAAGACCCG	ENSP00000236914.3:n.65-5005_65-4992delinsAGCTGTAAGACCCG
ENST00000367362.7:c.65-889_65-876delinsAGCTGTAAGACCCG	ENSP00000356331.3:n.65-889_65-876delinsAGCTGTAAGACCCG
ENST00000447034.1:c.98_101+10delinsAGCTGTAAGACCCG
ENST00000474307.1:c.*419-5005_*419-4992delinsAGCTGTAAGACCCG	ENSP00000436776.1:n.*419-5005_*419-4992delinsAGCTGTAAGACCCG
NM_003822.4:c.65-5005_65-4992delinsAGCTGTAAGACCCG	NP_003813.1:n.65-5005_65-4992delinsAGCTGTAAGACCCG
NM_205860.2:c.65-889_65-876delinsAGCTGTAAGACCCG	NP_995582.1:n.65-889_65-876delinsAGCTGTAAGACCCG
XM_011509380.1:c.-56-889_-56-876delinsAGCTGTAAGACCCG	XP_011507682.1:n.-56-889_-56-876delinsAGCTGTAAGACCCG
XM_011509381.1:c.-60_-57+10delinsAGCTGTAAGACCCG
XM_011509382.1:c.-14-5005_-14-4992delinsAGCTGTAAGACCCG	XP_011507684.1:n.-14-5005_-14-4992delinsAGCTGTAAGACCCG
XM_011509381.3:c.-60_-57+10delinsAGCTGTAAGACCCG
NM_205860.3:c.65-889_65-876delinsAGCTGTAAGACCCG MANE Select	NP_995582.1:n.65-889_65-876delinsAGCTGTAAGACCCG
NM_003822.5:c.65-5005_65-4992delinsAGCTGTAAGACCCG	NP_003813.1:n.65-5005_65-4992delinsAGCTGTAAGACCCG