Canonical Allele Identifier: CA1141904905
Gene: NR5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038150_200038151delinsGT , CM000663.2:g.200038150_200038151delinsGT GRCh38
NC_000001.10:g.200007278_200007279delinsGT , CM000663.1:g.200007278_200007279delinsGT GRCh37
NC_000001.9:g.198273901_198273902delinsGT NCBI36
NG_050913.1:g.15549_15550delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1508_65-1507delinsGT MANE Select ENSP00000356331.3:n.65-1508_65-1507delins...
ENST00000236914.7:c.65-5624_65-5623delinsGT ENSP00000236914.3:n.65-5624_65-5623delins...
ENST00000367362.7:c.65-1508_65-1507delinsGT ENSP00000356331.3:n.65-1508_65-1507delins...
ENST00000447034.1:c.30-551_30-550delinsGT
ENST00000474307.1:c.*419-5624_*419-5623delinsGT ENSP00000436776.1:n.*419-5624_*419-5623de...
NM_003822.4:c.65-5624_65-5623delinsGT NP_003813.1:n.65-5624_65-5623delinsGT
NM_205860.2:c.65-1508_65-1507delinsGT NP_995582.1:n.65-1508_65-1507delinsGT
XM_011509380.1:c.-56-1508_-56-1507delinsGT XP_011507682.1:n.-56-1508_-56-1507delinsG...
XM_011509382.1:c.-14-5624_-14-5623delinsGT XP_011507684.1:n.-14-5624_-14-5623delinsG...
XM_011509381.3:c.-679_-678delinsGT XP_011507683.1:n.-679_-678delinsGT
NM_205860.3:c.65-1508_65-1507delinsGT MANE Select NP_995582.1:n.65-1508_65-1507delinsGT
NM_003822.5:c.65-5624_65-5623delinsGT NP_003813.1:n.65-5624_65-5623delinsGT