Canonical Allele Identifier: CA1105646240
Gene: DLD HGNC NCBI

Linked Data

gnomAD v3: 7-107920250-TGTGTGGTG-T
gnomAD v4: 7-107920250-TGTGTGGTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107920251_107920258del , CM000669.2:g.107920251_107920258del GRCh38
NC_000007.13:g.107560696_107560703del , CM000669.1:g.107560696_107560703del GRCh37
NC_000007.12:g.107347932_107347939del NCBI36
NG_008045.1:g.34111_34118del

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.*992_*999del MANE Select ENSP00000205402.3:n.*992_*999del
ENST00000205402.9:c.*992_*999del ENSP00000205402.3:n.*992_*999del
ENST00000417551.5:c.*124+868_*124+875del ENSP00000390667.1:n.*124+868_*124+875del
NM_000108.4:c.*992_*999del NP_000099.2:n.*992_*999del
NM_001289750.1:c.*992_*999del NP_001276679.1:n.*992_*999del
NM_001289751.1:c.*992_*999del NP_001276680.1:n.*992_*999del
NM_001289752.1:c.*992_*999del NP_001276681.1:n.*992_*999del
NM_000108.5:c.*992_*999del MANE Select NP_000099.2:n.*992_*999del
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