Canonical Allele Identifier: CA1219157530
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038108_200038111delinsGGGA , CM000663.2:g.200038108_200038111delinsGGGA GRCh38
NC_000001.10:g.200007236_200007239delinsGGGA , CM000663.1:g.200007236_200007239delinsGGGA GRCh37
NC_000001.9:g.198273859_198273862delinsGGGA NCBI36
NG_050913.1:g.15507_15510delinsGGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1550_65-1547delinsGGGA MANE Select ENSP00000356331.3:n.65-1550_65-1547delins...
ENST00000236914.7:c.65-5666_65-5663delinsGGGA ENSP00000236914.3:n.65-5666_65-5663delins...
ENST00000367362.7:c.65-1550_65-1547delinsGGGA ENSP00000356331.3:n.65-1550_65-1547delins...
ENST00000447034.1:c.30-593_30-590delinsGGGA
ENST00000474307.1:c.*419-5666_*419-5663delinsGGGA ENSP00000436776.1:n.*419-5666_*419-5663de...
NM_003822.4:c.65-5666_65-5663delinsGGGA NP_003813.1:n.65-5666_65-5663delinsGGGA
NM_205860.2:c.65-1550_65-1547delinsGGGA NP_995582.1:n.65-1550_65-1547delinsGGGA
XM_011509380.1:c.-56-1550_-56-1547delinsGGGA XP_011507682.1:n.-56-1550_-56-1547delinsG...
XM_011509382.1:c.-14-5666_-14-5663delinsGGGA XP_011507684.1:n.-14-5666_-14-5663delinsG...
XM_011509381.3:c.-721_-718delinsGGGA XP_011507683.1:n.-721_-718delinsGGGA
NM_205860.3:c.65-1550_65-1547delinsGGGA MANE Select NP_995582.1:n.65-1550_65-1547delinsGGGA
NM_003822.5:c.65-5666_65-5663delinsGGGA NP_003813.1:n.65-5666_65-5663delinsGGGA