Canonical Allele Identifier: CA551566755

Gene: SRD5A3

Linked Data

• dbSNP Id: rs201174794
• gnomAD v2: 4-56212370-G-GCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGC
• gnomAD v3: 4-55346203-G-GCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGC
• gnomAD v4: 4-55346203-G-GCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGC
• MyVariant Identifiers: chr4:g.56212370_56212371insCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGC (hg19) ; chr4:g.55346203_55346204insCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346227_55346228insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC , CM000666.2:g.55346227_55346228insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC	GRCh38
NC_000004.11:g.56212394_56212395insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC , CM000666.1:g.56212394_56212395insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC	GRCh37
NC_000004.10:g.55907151_55907152insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC	NCBI36
NG_028230.1:g.5007_5008insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.8:c.-110_-109insCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTCCCCGCCCCGCGCCGCGTC	ENSP00000264228.4:n.-110_-109insCCCGCCCCGCGCCGCGTCCCCGCCCCGCG...