Canonical Allele Identifier: CA2643069219

Gene: SLC45A1

Linked Data

• gnomAD v4: 1-8325962-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325966del , CM000663.2:g.8325966del	GRCh38
NC_000001.10:g.8386026del , CM000663.1:g.8386026del	GRCh37
NC_000001.9:g.8308613del	NCBI36
NG_034025.1:g.12882del

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.639del MANE Select	ENSP00000418096.3:p.Ser214AlafsTer5
ENST00000289877.8:c.639del	ENSP00000289877.8:p.Ser214AlafsTer5
ENST00000471889.5:c.741del	ENSP00000418096.2:p.Ser248AlafsTer5
NM_001080397.2:c.741del	NP_001073866.2:p.Ser248AlafsTer5
XM_011541530.1:c.741del	XP_011539832.1:p.Ser248AlafsTer5
XM_011541531.1:c.648del	XP_011539833.1:p.Ser217AlafsTer5
XM_011541530.2:c.741del	XP_011539832.1:p.Ser248AlafsTer5
XM_011541531.2:c.648del	XP_011539833.1:p.Ser217AlafsTer5
XM_024447371.1:c.648del	XP_024303139.1:p.Ser217AlafsTer5
XM_024447372.1:c.33del	XP_024303140.1:p.Ser12AlafsTer5
NM_001080397.3:c.639del MANE Select	NP_001073866.3:p.Ser214AlafsTer5
NM_001379614.1:c.639del	NP_001366543.1:p.Ser214AlafsTer5
NM_001379615.1:c.546del	NP_001366544.1:p.Ser183AlafsTer5
NM_001379616.1:c.546del	NP_001366545.1:p.Ser183AlafsTer5
NM_001379617.1:c.33del	NP_001366546.1:p.Ser12AlafsTer5
NM_001379618.1:c.33del	NP_001366547.1:p.Ser12AlafsTer5