Canonical Allele Identifier: CA2624142027

Gene: SLC7A7

Linked Data

• gnomAD v4: 14-22775530-CAAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22775535_22775539del , CM000676.2:g.22775535_22775539del	GRCh38
NC_000014.8:g.23244744_23244748del , CM000676.1:g.23244744_23244748del	GRCh37
NC_000014.7:g.22314584_22314588del	NCBI36
NG_012851.2:g.59286_59290del , LRG_695:g.59286_59290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.1004_1008del	ENSP00000452551.2:p.Phe335CysfsTer10
ENST00000698939.1:c.*70_*74del	ENSP00000514047.1:n.*70_*74del
ENST00000698940.1:n.66_70del
ENST00000397532.9:c.1004_1008del	ENSP00000380666.4:p.Phe335CysfsTer10
ENST00000674313.1:c.1004_1008del MANE Select	ENSP00000501493.1:p.Phe335CysfsTer10
ENST00000285850.11:c.1004_1008del	ENSP00000285850.7:p.Phe335CysfsTer10
ENST00000397528.8:c.1004_1008del	ENSP00000380662.4:p.Phe335CysfsTer10
ENST00000397529.6:c.1004_1008del	ENSP00000380663.2:p.Phe335CysfsTer10
ENST00000397532.7:c.1004_1008del	ENSP00000380666.3:p.Phe335CysfsTer10
ENST00000554061.5:n.675_679del
ENST00000554517.5:c.206_210del	ENSP00000452083.1:p.Phe69CysfsTer10
ENST00000555678.1:n.265_269del
ENST00000555702.5:c.1004_1008del	ENSP00000451881.1:p.Phe335CysfsTer10
ENST00000556287.5:c.900_904del	ENSP00000450715.1:p.Phe300LeufsTer15
ENST00000556350.1:c.148_152del
NM_001126105.2:c.1004_1008del , LRG_695t1:c.1004_1008del	NP_001119577.1:p.Phe335CysfsTer10
NM_001126106.2:c.1004_1008del , LRG_695t2:c.1004_1008del	NP_001119578.1:p.Phe335CysfsTer10
NR_040448.1:n.1619_1623del
XM_006720302.1:c.1004_1008del	XP_006720365.1:p.Phe335CysfsTer10
XM_011537298.1:c.1004_1008del	XP_011535600.1:p.Phe335CysfsTer10
XM_011537299.1:c.1004_1008del	XP_011535601.1:p.Phe335CysfsTer10
XM_006720302.2:c.1004_1008del	XP_006720365.1:p.Phe335CysfsTer10
XM_011537298.3:c.1004_1008del	XP_011535600.1:p.Phe335CysfsTer10
NM_001126105.3:c.1004_1008del	NP_001119577.1:p.Phe335CysfsTer10
NM_001126106.4:c.1004_1008del	NP_001119578.1:p.Phe335CysfsTer10
NM_003982.4:c.1004_1008del MANE Select	NP_003973.3:p.Phe335CysfsTer10