Canonical Allele Identifier: CA2499216511

Gene: DBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138174758_138174759delinsCC , CM000665.2:g.138174758_138174759delinsCC	GRCh38
NC_000003.11:g.137893600_137893601delinsCC , CM000665.1:g.137893600_137893601delinsCC	GRCh37
NC_000003.10:g.139376290_139376291delinsCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016216.4:c.37_38delinsGG MANE Select	NP_057300.2:p.Leu13Gly
ENST00000260803.9:c.37_38delinsGG MANE Select	ENSP00000260803.4:p.Leu13Gly
NM_016216.3:c.37_38delinsGG	NP_057300.2:p.Leu13Gly
ENST00000260803.8:c.37_38delinsGG	ENSP00000260803.4:p.Leu13Gly
ENST00000463982.2:n.108_109delinsGG
ENST00000463982.3:n.183_184delinsGG
ENST00000477557.3:c.37_38delinsGG	ENSP00000417262.3:p.Leu13Gly
ENST00000698922.1:c.37_38delinsGG	ENSP00000514033.1:p.Leu13Gly
ENST00000698923.1:c.37_38delinsGG	ENSP00000514034.1:p.Leu13Gly
ENST00000698924.1:c.37_38delinsGG	ENSP00000514035.1:p.Leu13Gly
ENST00000698925.1:c.37_38delinsGG	ENSP00000514036.1:p.Leu13Gly