Canonical Allele Identifier: CA1062741339

Gene: SRD5A3

Linked Data

• gnomAD v3: 4-55346231-G-GCCCCGCGCCGCGTCCCCGCCCCGCGCC
• gnomAD v4: 4-55346231-G-GCCCCGCGCCGCGTCCCCGCCCCGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346231_55346232insCCCCGCGCCGCGTCCCCGCCCCGCGCC , CM000666.2:g.55346231_55346232insCCCCGCGCCGCGTCCCCGCCCCGCGCC	GRCh38
NC_000004.11:g.56212398_56212399insCCCCGCGCCGCGTCCCCGCCCCGCGCC , CM000666.1:g.56212398_56212399insCCCCGCGCCGCGTCCCCGCCCCGCGCC	GRCh37
NC_000004.10:g.55907155_55907156insCCCCGCGCCGCGTCCCCGCCCCGCGCC	NCBI36
NG_028230.1:g.5011_5012insCCCCGCGCCGCGTCCCCGCCCCGCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679707.1:c.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC	ENSP00000505713.1:n.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC
ENST00000679836.1:c.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC	ENSP00000506601.1:n.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC
ENST00000264228.8:c.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC	ENSP00000264228.4:n.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC
NM_024592.4:c.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC	NP_078868.1:n.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC
XM_005265767.3:c.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC	XP_005265824.1:n.-106_-105insCCCCGCGCCGCGTCCCCGCCCCGCGCC