Canonical Allele Identifier: CA2649706593

Gene: NR5A2

Linked Data

• gnomAD v4: 1-200038805-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038805_200038806insG , CM000663.2:g.200038805_200038806insG	GRCh38
NC_000001.10:g.200007933_200007934insG , CM000663.1:g.200007933_200007934insG	GRCh37
NC_000001.9:g.198274556_198274557insG	NCBI36
NG_050913.1:g.16204_16205insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-853_65-852insG MANE Select	ENSP00000356331.3:n.65-853_65-852insG
ENST00000236914.7:c.65-4969_65-4968insG	ENSP00000236914.3:n.65-4969_65-4968insG
ENST00000367362.7:c.65-853_65-852insG	ENSP00000356331.3:n.65-853_65-852insG
ENST00000447034.1:c.101+33_101+34insG
ENST00000474307.1:c.*419-4969_*419-4968insG	ENSP00000436776.1:n.*419-4969_*419-4968insG
NM_003822.4:c.65-4969_65-4968insG	NP_003813.1:n.65-4969_65-4968insG
NM_205860.2:c.65-853_65-852insG	NP_995582.1:n.65-853_65-852insG
XM_011509380.1:c.-56-853_-56-852insG	XP_011507682.1:n.-56-853_-56-852insG
XM_011509381.1:c.-57+33_-57+34insG	XP_011507683.1:n.-57+33_-57+34insG
XM_011509382.1:c.-14-4969_-14-4968insG	XP_011507684.1:n.-14-4969_-14-4968insG
XM_011509381.3:c.-57+33_-57+34insG	XP_011507683.1:n.-57+33_-57+34insG
NM_205860.3:c.65-853_65-852insG MANE Select	NP_995582.1:n.65-853_65-852insG
NM_003822.5:c.65-4969_65-4968insG	NP_003813.1:n.65-4969_65-4968insG