Canonical Allele Identifier: CA2739277800
Gene: SLC7A7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2860078
ClinVar RCV Id: RCV003616886

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22779935del , CM000676.2:g.22779935del GRCh38
NC_000014.8:g.23249144del , CM000676.1:g.23249144del GRCh37
NC_000014.7:g.22318984del NCBI36
NG_012851.2:g.54886del , LRG_695:g.54886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.616del ENSP00000452551.2:p.Gly207AlafsTer?
ENST00000698939.1:c.616del ENSP00000514047.1:p.Gly207AlafsTer?
ENST00000397532.9:c.616del ENSP00000380666.4:p.Gly207AlafsTer?
ENST00000674313.1:c.616del MANE Select ENSP00000501493.1:p.Gly207AlafsTer?
ENST00000285850.11:c.616del ENSP00000285850.7:p.Gly207AlafsTer?
ENST00000397528.8:c.616del ENSP00000380662.4:p.Gly207AlafsTer?
ENST00000397529.6:c.616del ENSP00000380663.2:p.Gly207AlafsTer?
ENST00000397532.7:c.616del ENSP00000380666.3:p.Gly207AlafsTer?
ENST00000554061.5:n.287del
ENST00000554517.5:c.-183del ENSP00000452083.1:n.-183del
ENST00000555702.5:c.616del ENSP00000451881.1:p.Gly207AlafsTer?
ENST00000556287.5:c.616del ENSP00000450715.1:p.Gly207AlafsTer?
NM_001126105.2:c.616del , LRG_695t1:c.616del NP_001119577.1:p.Gly207AlafsTer?
NM_001126106.2:c.616del , LRG_695t2:c.616del NP_001119578.1:p.Gly207AlafsTer?
NR_040448.1:n.1231del
XM_006720302.1:c.616del XP_006720365.1:p.Gly207AlafsTer?
XM_011537298.1:c.616del XP_011535600.1:p.Gly207AlafsTer?
XM_011537299.1:c.616del XP_011535601.1:p.Gly207AlafsTer?
XM_006720302.2:c.616del XP_006720365.1:p.Gly207AlafsTer?
XM_011537298.3:c.616del XP_011535600.1:p.Gly207AlafsTer?
NM_001126105.3:c.616del NP_001119577.1:p.Gly207AlafsTer?
NM_001126106.4:c.616del NP_001119578.1:p.Gly207AlafsTer?
NM_003982.4:c.616del MANE Select NP_003973.3:p.Gly207AlafsTer?