Canonical Allele Identifier: CA1148435280

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038796_200038801delinsCCCCCC , CM000663.2:g.200038796_200038801delinsCCCCCC	GRCh38
NC_000001.10:g.200007924_200007929delinsCCCCCC , CM000663.1:g.200007924_200007929delinsCCCCCC	GRCh37
NC_000001.9:g.198274547_198274552delinsCCCCCC	NCBI36
NG_050913.1:g.16195_16200delinsCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-862_65-857delinsCCCCCC MANE Select	ENSP00000356331.3:n.65-862_65-857delinsCCCCCC
ENST00000236914.7:c.65-4978_65-4973delinsCCCCCC	ENSP00000236914.3:n.65-4978_65-4973delinsCCCCCC
ENST00000367362.7:c.65-862_65-857delinsCCCCCC	ENSP00000356331.3:n.65-862_65-857delinsCCCCCC
ENST00000447034.1:c.101+24_101+29delinsCCCCCC
ENST00000474307.1:c.*419-4978_*419-4973delinsCCCCCC	ENSP00000436776.1:n.*419-4978_*419-4973delinsCCCCCC
NM_003822.4:c.65-4978_65-4973delinsCCCCCC	NP_003813.1:n.65-4978_65-4973delinsCCCCCC
NM_205860.2:c.65-862_65-857delinsCCCCCC	NP_995582.1:n.65-862_65-857delinsCCCCCC
XM_011509380.1:c.-56-862_-56-857delinsCCCCCC	XP_011507682.1:n.-56-862_-56-857delinsCCCCCC
XM_011509381.1:c.-57+24_-57+29delinsCCCCCC	XP_011507683.1:n.-57+24_-57+29delinsCCCCCC
XM_011509382.1:c.-14-4978_-14-4973delinsCCCCCC	XP_011507684.1:n.-14-4978_-14-4973delinsCCCCCC
XM_011509381.3:c.-57+24_-57+29delinsCCCCCC	XP_011507683.1:n.-57+24_-57+29delinsCCCCCC
NM_205860.3:c.65-862_65-857delinsCCCCCC MANE Select	NP_995582.1:n.65-862_65-857delinsCCCCCC
NM_003822.5:c.65-4978_65-4973delinsCCCCCC	NP_003813.1:n.65-4978_65-4973delinsCCCCCC