Canonical Allele Identifier: CA2665162993

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394514-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394517_39394518del , CM000665.2:g.39394517_39394518del	GRCh38
NC_000003.11:g.39436008_39436009del , CM000665.1:g.39436008_39436009del	GRCh37
NC_000003.10:g.39411012_39411013del	NCBI36
NG_016931.1:g.16194_16195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.685_686del	ENSP00000495376.1:p.Met229AlafsTer?
ENST00000643672.1:c.682_683del	ENSP00000494532.1:p.Met228AlafsTer?
ENST00000645280.1:c.679_680del	ENSP00000496690.1:p.Met227AlafsTer?
ENST00000648579.1:c.*30_*31del	ENSP00000497638.1:n.*30_*31del
ENST00000650617.1:c.733_734del MANE Select	ENSP00000497532.1:p.Met245AlafsTer?
ENST00000273158.8:c.733_734del	ENSP00000273158.3:p.Met245AlafsTer?
NM_017875.2:c.733_734del	NP_060345.2:p.Met245AlafsTer?
XM_006713214.1:c.721_722del	XP_006713277.1:p.Met241AlafsTer?
XM_011533869.1:c.715_716del	XP_011532171.1:p.Met239AlafsTer?
XM_011533870.1:c.682_683del	XP_011532172.1:p.Met228AlafsTer?
XM_011533871.1:c.553_554del	XP_011532173.1:p.Met185AlafsTer?
NM_001354798.1:c.626-1881_626-1880del	NP_001341727.1:n.626-1881_626-1880del
NM_017875.4:c.733_734del MANE Select	NP_060345.2:p.Met245AlafsTer?
XM_006713214.2:c.721_722del	XP_006713277.1:p.Met241AlafsTer?
XM_011533869.2:c.715_716del	XP_011532171.1:p.Met239AlafsTer?
XM_024453611.1:c.679_680del	XP_024309379.1:p.Met227AlafsTer?
NM_001354798.2:c.626-1881_626-1880del	NP_001341727.1:n.626-1881_626-1880del