Canonical Allele Identifier: CA341699018

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113908079A>C , CM000663.2:g.113908079A>C	GRCh38
NC_000001.10:g.114450701A>C , CM000663.1:g.114450701A>C	GRCh37
NC_000001.9:g.114252224A>C	NCBI36
NG_031901.1:g.2041T>G
NG_057565.1:g.8461A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.426A>C MANE Select	NP_073747.1:p.Leu142Phe
ENST00000650450.2:c.426A>C MANE Select	ENSP00000498042.1:p.Leu142Phe
NM_001319946.2:c.48A>C	NP_001306875.1:p.Leu16Phe
NM_001319947.2:c.48A>C	NP_001306876.1:p.Leu16Phe
NM_001363690.1:c.426A>C	NP_001350619.1:p.Leu142Phe
NM_001363690.2:c.426A>C	NP_001350619.1:p.Leu142Phe
NM_001363691.1:c.48A>C	NP_001350620.1:p.Leu16Phe
NM_001363691.2:c.48A>C	NP_001350620.1:p.Leu16Phe
NM_022836.3:c.426A>C	NP_073747.1:p.Leu142Phe
ENST00000369563.3:c.426A>C	ENSP00000358576.3:p.Leu142Phe
ENST00000466480.1:n.438A>C
ENST00000466480.2:c.*41A>C	ENSP00000497696.1:n.*41A>C
ENST00000648795.1:c.*41A>C	ENSP00000497557.1:n.*41A>C
ENST00000650596.1:c.355+918A>C	ENSP00000497882.1:n.355+918A>C
ENST00000697125.1:n.468A>C
ENST00000697126.1:n.834A>C
XM_005271130.2:c.48A>C	XP_005271187.1:p.Leu16Phe