Canonical Allele Identifier: CA528296394

Gene: NR5A2

Linked Data

• dbSNP Id: rs1219228331
• gnomAD v2: 1-200007897-AGCTGTAAGACCCG-A
• gnomAD v3: 1-200038769-AGCTGTAAGACCCG-A
• gnomAD v4: 1-200038769-AGCTGTAAGACCCG-A
• MyVariant Identifiers: chr1:g.200007898_200007910del (hg19) ; chr1:g.200038770_200038782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038774_200038786del , CM000663.2:g.200038774_200038786del	GRCh38
NC_000001.10:g.200007902_200007914del , CM000663.1:g.200007902_200007914del	GRCh37
NC_000001.9:g.198274525_198274537del	NCBI36
NG_050913.1:g.16173_16185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-884_65-872del MANE Select	ENSP00000356331.3:n.65-884_65-872del
ENST00000236914.7:c.65-5000_65-4988del	ENSP00000236914.3:n.65-5000_65-4988del
ENST00000367362.7:c.65-884_65-872del	ENSP00000356331.3:n.65-884_65-872del
ENST00000447034.1:c.101+2_101+14del
ENST00000474307.1:c.*419-5000_*419-4988del	ENSP00000436776.1:n.*419-5000_*419-4988del
NM_003822.4:c.65-5000_65-4988del	NP_003813.1:n.65-5000_65-4988del
NM_205860.2:c.65-884_65-872del	NP_995582.1:n.65-884_65-872del
XM_011509380.1:c.-56-884_-56-872del	XP_011507682.1:n.-56-884_-56-872del
XM_011509381.1:c.-57+2_-57+14del
XM_011509382.1:c.-14-5000_-14-4988del	XP_011507684.1:n.-14-5000_-14-4988del
XM_011509381.3:c.-57+2_-57+14del
NM_205860.3:c.65-884_65-872del MANE Select	NP_995582.1:n.65-884_65-872del
NM_003822.5:c.65-5000_65-4988del	NP_003813.1:n.65-5000_65-4988del