Canonical Allele Identifier: CA341699019

Gene: DCLRE1B

Genomic Alleles

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

Transcript Alleles

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