Canonical Allele Identifier: CA1120422154
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1239644718
gnomAD v3: 9-894315-GAC-G
gnomAD v4: 9-894315-GAC-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894323_894324del , CM000671.2:g.894323_894324del GRCh38
NC_000009.11:g.894323_894324del , CM000671.1:g.894323_894324del GRCh37
NC_000009.10:g.884323_884324del NCBI36
NG_009221.1:g.57634_57635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.822+128_822+129del MANE Select ENSP00000371711.3:n.822+128_822+129del
ENST00000382276.7:c.822+128_822+129del ENSP00000371711.3:n.822+128_822+129del
ENST00000564322.1:n.1099_1100del
ENST00000569227.1:c.348+128_348+129del ENSP00000454701.1:n.348+128_348+129del
NM_021951.2:c.822+128_822+129del NP_068770.2:n.822+128_822+129del
XM_006716732.1:c.822+128_822+129del XP_006716795.1:n.822+128_822+129del
XM_011517770.1:c.870+128_870+129del XP_011516072.1:n.870+128_870+129del
XM_011517771.1:c.870+128_870+129del XP_011516073.1:n.870+128_870+129del
XM_011517772.1:c.870+128_870+129del XP_011516074.1:n.870+128_870+129del
XM_011517773.1:c.348+128_348+129del XP_011516075.1:n.348+128_348+129del
NM_001363767.1:c.348+128_348+129del NP_001350696.1:n.348+128_348+129del
XM_011517773.3:c.348+128_348+129del XP_011516075.1:n.348+128_348+129del
XM_017014374.1:c.587-22440_587-22439del XP_016869863.1:n.587-22440_587-22439del
XM_017014375.1:c.539-22440_539-22439del XP_016869864.1:n.539-22440_539-22439del
XM_024447434.1:c.276+128_276+129del XP_024303202.1:n.276+128_276+129del
NM_021951.3:c.822+128_822+129del MANE Select NP_068770.2:n.822+128_822+129del