Canonical Allele Identifier: CA1219157536

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038125_200038127delinsCTT , CM000663.2:g.200038125_200038127delinsCTT	GRCh38
NC_000001.10:g.200007253_200007255delinsCTT , CM000663.1:g.200007253_200007255delinsCTT	GRCh37
NC_000001.9:g.198273876_198273878delinsCTT	NCBI36
NG_050913.1:g.15524_15526delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000367362.8:c.65-1533_65-1531delinsCTT MANE Select	ENSP00000356331.3:n.65-1533_65-1531delins...
ENST00000236914.7:c.65-5649_65-5647delinsCTT	ENSP00000236914.3:n.65-5649_65-5647delins...
ENST00000367362.7:c.65-1533_65-1531delinsCTT	ENSP00000356331.3:n.65-1533_65-1531delins...
ENST00000447034.1:c.30-576_30-574delinsCTT
ENST00000474307.1:c.*419-5649_*419-5647delinsCTT	ENSP00000436776.1:n.*419-5649_*419-5647de...
NM_003822.4:c.65-5649_65-5647delinsCTT	NP_003813.1:n.65-5649_65-5647delinsCTT
NM_205860.2:c.65-1533_65-1531delinsCTT	NP_995582.1:n.65-1533_65-1531delinsCTT
XM_011509380.1:c.-56-1533_-56-1531delinsCTT	XP_011507682.1:n.-56-1533_-56-1531delinsC...
XM_011509382.1:c.-14-5649_-14-5647delinsCTT	XP_011507684.1:n.-14-5649_-14-5647delinsC...
XM_011509381.3:c.-704_-702delinsCTT	XP_011507683.1:n.-704_-702delinsCTT
NM_205860.3:c.65-1533_65-1531delinsCTT MANE Select	NP_995582.1:n.65-1533_65-1531delinsCTT
NM_003822.5:c.65-5649_65-5647delinsCTT	NP_003813.1:n.65-5649_65-5647delinsCTT