Canonical Allele Identifier: CA557622615

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1422445062
• gnomAD v2: 5-6651625-A-ATAATAT
• gnomAD v3: 5-6651512-A-ATAATAT
• gnomAD v4: 5-6651512-A-ATAATAT
• MyVariant Identifiers: chr5:g.6651625_6651626insTAATAT (hg19) ; chr5:g.6651512_6651513insTAATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651517_6651518insTTAATA , CM000667.2:g.6651517_6651518insTTAATA	GRCh38
NC_000005.9:g.6651630_6651631insTTAATA , CM000667.1:g.6651630_6651631insTTAATA	GRCh37
NC_000005.8:g.6704630_6704631insTTAATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-325_294-324insTTAATA	ENSP00000518753.1:n.294-325_294-324insTTAATA
ENST00000510531.6:c.*415-325_*415-324insTTAATA	ENSP00000425330.1:n.*415-325_*415-324insTTAATA
ENST00000274192.7:c.294-325_294-324insTTAATA MANE Select	ENSP00000274192.5:n.294-325_294-324insTTAATA
ENST00000274192.6:c.294-325_294-324insTTAATA	ENSP00000274192.5:n.294-325_294-324insTTAATA
ENST00000504286.1:n.415-325_415-324insTTAATA
ENST00000510531.5:c.*415-325_*415-324insTTAATA	ENSP00000425330.1:n.*415-325_*415-324insTTAATA
ENST00000513117.1:c.294-4561_294-4560insTTAATA	ENSP00000421342.1:n.294-4561_294-4560insTTAATA
NM_001047.2:c.294-325_294-324insTTAATA	NP_001038.1:n.294-325_294-324insTTAATA
XM_011514103.1:c.320-4561_320-4560insTTAATA	XP_011512405.1:n.320-4561_320-4560insTTAATA
NM_001047.3:c.294-325_294-324insTTAATA	NP_001038.1:n.294-325_294-324insTTAATA
NM_001324322.1:c.320-4561_320-4560insTTAATA	NP_001311251.1:n.320-4561_320-4560insTTAATA
NM_001324323.1:c.75-325_75-324insTTAATA	NP_001311252.1:n.75-325_75-324insTTAATA
NR_136739.1:n.549-325_549-324insTTAATA
NM_001047.4:c.294-325_294-324insTTAATA MANE Select	NP_001038.1:n.294-325_294-324insTTAATA
NM_001324322.2:c.320-4561_320-4560insTTAATA	NP_001311251.1:n.320-4561_320-4560insTTAATA
NM_001324323.2:c.75-325_75-324insTTAATA	NP_001311252.1:n.75-325_75-324insTTAATA
NR_136739.2:n.431-325_431-324insTTAATA