Canonical Allele Identifier: CA2575479631
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22812945dup , CM000676.2:g.22812945dup GRCh38
NC_000014.8:g.23282154dup , CM000676.1:g.23282154dup GRCh37
NC_000014.7:g.22351994dup NCBI36
NG_012851.2:g.21877dup , LRG_695:g.21877dup

Transcript Alleles

HGVS Amino-acid Change
NM_003982.4:c.455dup MANE Select NP_003973.3:p.Ala153ArgfsTer21
ENST00000674313.1:c.455dup MANE Select ENSP00000501493.1:p.Ala153ArgfsTer21
NM_001126105.2:c.455dup , LRG_695t1:c.455dup NP_001119577.1:p.Ala153ArgfsTer21
NM_001126105.3:c.455dup NP_001119577.1:p.Ala153ArgfsTer21
NM_001126106.2:c.455dup , LRG_695t2:c.455dup NP_001119578.1:p.Ala153ArgfsTer21
NM_001126106.4:c.455dup NP_001119578.1:p.Ala153ArgfsTer21
NR_040448.1:n.1070dup
ENST00000285850.11:c.455dup ENSP00000285850.7:p.Ala153ArgfsTer21
ENST00000397528.8:c.455dup ENSP00000380662.4:p.Ala153ArgfsTer21
ENST00000397529.6:c.455dup ENSP00000380663.2:p.Ala153ArgfsTer21
ENST00000397532.7:c.455dup ENSP00000380666.3:p.Ala153ArgfsTer21
ENST00000397532.9:c.455dup ENSP00000380666.4:p.Ala153ArgfsTer21
ENST00000554517.5:c.-300+6694dup ENSP00000452083.1:n.-300+6694dup
ENST00000554758.1:c.455dup ENSP00000450671.1:p.Ala153ArgfsTer?
ENST00000555702.5:c.455dup ENSP00000451881.1:p.Ala153ArgfsTer21
ENST00000555911.2:c.455dup ENSP00000452551.2:p.Ala153ArgfsTer21
ENST00000556287.5:c.455dup ENSP00000450715.1:p.Ala153ArgfsTer21
ENST00000698939.1:c.455dup ENSP00000514047.1:p.Ala153ArgfsTer21
XM_006720302.1:c.455dup XP_006720365.1:p.Ala153ArgfsTer21
XM_006720302.2:c.455dup XP_006720365.1:p.Ala153ArgfsTer21
XM_011537298.1:c.455dup XP_011535600.1:p.Ala153ArgfsTer21
XM_011537298.3:c.455dup XP_011535600.1:p.Ala153ArgfsTer21
XM_011537299.1:c.455dup XP_011535601.1:p.Ala153ArgfsTer21