Canonical Allele Identifier: CA2697551978
Gene: SLC7A7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768122
ClinVar RCV Id: RCV003507864

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22779917del , CM000676.2:g.22779917del GRCh38
NC_000014.8:g.23249126del , CM000676.1:g.23249126del GRCh37
NC_000014.7:g.22318966del NCBI36
NG_012851.2:g.54904del , LRG_695:g.54904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.625+9del ENSP00000452551.2:n.625+9del
ENST00000698939.1:c.625+9del ENSP00000514047.1:n.625+9del
ENST00000397532.9:c.625+9del ENSP00000380666.4:n.625+9del
ENST00000674313.1:c.625+9del MANE Select ENSP00000501493.1:n.625+9del
ENST00000285850.11:c.625+9del ENSP00000285850.7:n.625+9del
ENST00000397528.8:c.625+9del ENSP00000380662.4:n.625+9del
ENST00000397529.6:c.625+9del ENSP00000380663.2:n.625+9del
ENST00000397532.7:c.625+9del ENSP00000380666.3:n.625+9del
ENST00000554061.5:n.296+9del
ENST00000554517.5:c.-174+9del ENSP00000452083.1:n.-174+9del
ENST00000555702.5:c.625+9del ENSP00000451881.1:n.625+9del
ENST00000556287.5:c.625+9del ENSP00000450715.1:n.625+9del
NM_001126105.2:c.625+9del , LRG_695t1:c.625+9del NP_001119577.1:n.625+9del
NM_001126106.2:c.625+9del , LRG_695t2:c.625+9del NP_001119578.1:n.625+9del
NR_040448.1:n.1240+9del
XM_006720302.1:c.625+9del XP_006720365.1:n.625+9del
XM_011537298.1:c.625+9del XP_011535600.1:n.625+9del
XM_011537299.1:c.625+9del XP_011535601.1:n.625+9del
XM_006720302.2:c.625+9del XP_006720365.1:n.625+9del
XM_011537298.3:c.625+9del XP_011535600.1:n.625+9del
NM_001126105.3:c.625+9del NP_001119577.1:n.625+9del
NM_001126106.4:c.625+9del NP_001119578.1:n.625+9del
NM_003982.4:c.625+9del MANE Select NP_003973.3:n.625+9del