Canonical Allele Identifier: CA2624141192

Gene: SLC7A7

Linked Data

• gnomAD v4: 14-22780016-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22780019del , CM000676.2:g.22780019del	GRCh38
NC_000014.8:g.23249228del , CM000676.1:g.23249228del	GRCh37
NC_000014.7:g.22319068del	NCBI36
NG_012851.2:g.54804del , LRG_695:g.54804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.534del	ENSP00000452551.2:p.Lys178AsnfsTer18
ENST00000698939.1:c.534del	ENSP00000514047.1:p.Lys178AsnfsTer18
ENST00000397532.9:c.534del	ENSP00000380666.4:p.Lys178AsnfsTer18
ENST00000674313.1:c.534del MANE Select	ENSP00000501493.1:p.Lys178AsnfsTer18
ENST00000285850.11:c.534del	ENSP00000285850.7:p.Lys178AsnfsTer18
ENST00000397528.8:c.534del	ENSP00000380662.4:p.Lys178AsnfsTer18
ENST00000397529.6:c.534del	ENSP00000380663.2:p.Lys178AsnfsTer18
ENST00000397532.7:c.534del	ENSP00000380666.3:p.Lys178AsnfsTer18
ENST00000554061.5:n.205del
ENST00000554517.5:c.-265del	ENSP00000452083.1:n.-265del
ENST00000555702.5:c.534del	ENSP00000451881.1:p.Lys178AsnfsTer18
ENST00000556287.5:c.534del	ENSP00000450715.1:p.Lys178AsnfsTer18
NM_001126105.2:c.534del , LRG_695t1:c.534del	NP_001119577.1:p.Lys178AsnfsTer18
NM_001126106.2:c.534del , LRG_695t2:c.534del	NP_001119578.1:p.Lys178AsnfsTer18
NR_040448.1:n.1149del
XM_006720302.1:c.534del	XP_006720365.1:p.Lys178AsnfsTer18
XM_011537298.1:c.534del	XP_011535600.1:p.Lys178AsnfsTer18
XM_011537299.1:c.534del	XP_011535601.1:p.Lys178AsnfsTer18
XM_006720302.2:c.534del	XP_006720365.1:p.Lys178AsnfsTer18
XM_011537298.3:c.534del	XP_011535600.1:p.Lys178AsnfsTer18
NM_001126105.3:c.534del	NP_001119577.1:p.Lys178AsnfsTer18
NM_001126106.4:c.534del	NP_001119578.1:p.Lys178AsnfsTer18
NM_003982.4:c.534del MANE Select	NP_003973.3:p.Lys178AsnfsTer18