Canonical Allele Identifier: CA2073100968

Gene: CHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132851574_132851578delinsGGACA , CM000674.2:g.132851574_132851578delinsGGACA	GRCh38
NC_000012.11:g.133428160_133428164delinsGGACA , CM000674.1:g.133428160_133428164delinsGGACA	GRCh37
NC_000012.10:g.131938233_131938237delinsGGACA	NCBI36
NG_033999.1:g.41041_41045delinsTGTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000450056.7:c.1492+40_1492+44delinsTGTCC MANE Select	ENSP00000398735.2:n.1492+40_1492+44delinsTGTCC
ENST00000266880.11:c.1405+40_1405+44delinsTGTCC	ENSP00000266880.8:n.1405+40_1405+44delinsTGTCC
ENST00000315585.11:c.928+40_928+44delinsTGTCC	ENSP00000320557.8:n.928+40_928+44delinsTGTCC
ENST00000432561.6:c.1528+40_1528+44delinsTGTCC	ENSP00000392395.2:n.1528+40_1528+44delinsTGTCC
ENST00000443047.6:c.1252+40_1252+44delinsTGTCC	ENSP00000416431.2:n.1252+40_1252+44delinsTGTCC
ENST00000450056.6:c.1492+40_1492+44delinsTGTCC	ENSP00000398735.2:n.1492+40_1492+44delinsTGTCC
ENST00000535527.5:c.99-2854_99-2850delinsTGTCC	ENSP00000478791.1:n.99-2854_99-2850delinsTGTCC
ENST00000538235.2:n.59+1853_59+1857delinsTGTCC
ENST00000544093.5:c.41+40_41+44delinsTGTCC
ENST00000544268.5:n.791+40_791+44delinsTGTCC
NM_001161344.1:c.1528+40_1528+44delinsTGTCC	NP_001154816.1:n.1528+40_1528+44delinsTGTCC
NM_001161345.1:c.1525+40_1525+44delinsTGTCC	NP_001154817.1:n.1525+40_1525+44delinsTGTCC
NM_001161346.1:c.1492+40_1492+44delinsTGTCC	NP_001154818.1:n.1492+40_1492+44delinsTGTCC
NM_001161347.1:c.1252+40_1252+44delinsTGTCC	NP_001154819.1:n.1252+40_1252+44delinsTGTCC
NM_018223.2:c.1405+40_1405+44delinsTGTCC	NP_060693.2:n.1405+40_1405+44delinsTGTCC
NM_001161346.2:c.1492+40_1492+44delinsTGTCC MANE Select	NP_001154818.1:n.1492+40_1492+44delinsTGTCC