Canonical Allele Identifier: CA2580079292

Gene: SLC44A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105356299del , CM000671.2:g.105356299del	GRCh38
NC_000009.11:g.108118580del , CM000671.1:g.108118580del	GRCh37
NC_000009.10:g.107158401del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080546.5:c.588del MANE Select	NP_536856.2:p.Ser196ArgfsTer9
ENST00000374720.8:c.588del MANE Select	ENSP00000363852.3:p.Ser196ArgfsTer9
NM_001286730.1:c.588del	NP_001273659.1:p.Ser196ArgfsTer9
NM_001286730.2:c.588del	NP_001273659.1:p.Ser196ArgfsTer9
NM_001330731.1:c.588del	NP_001317660.1:p.Ser196ArgfsTer9
NM_001330731.2:c.588del	NP_001317660.1:p.Ser196ArgfsTer9
NM_080546.4:c.588del	NP_536856.2:p.Ser196ArgfsTer9
ENST00000374720.7:c.588del	ENSP00000363852.3:p.Ser196ArgfsTer9
ENST00000374723.5:c.588del	ENSP00000363855.1:p.Ser196ArgfsTer9
ENST00000374724.1:c.588del	ENSP00000363856.1:p.Ser196ArgfsTer9
ENST00000470972.5:c.588del	ENSP00000433072.1:p.Ser196ArgfsTer9
ENST00000607701.1:n.383del
ENST00000699289.1:c.588del	ENSP00000514270.1:p.Ser196ArgfsTer9
ENST00000699290.1:c.588del	ENSP00000514271.1:p.Ser196ArgfsTer9
XM_005251855.3:c.588del	XP_005251912.1:p.Ser196ArgfsTer9
XM_005251855.4:c.588del	XP_005251912.1:p.Ser196ArgfsTer9
XM_005251857.3:c.489del	XP_005251914.1:p.Ser163ArgfsTer9
XM_006717027.2:c.642del	XP_006717090.1:p.Ser214ArgfsTer9
XM_006717027.3:c.642del	XP_006717090.1:p.Ser214ArgfsTer9
XM_006717028.2:c.642del	XP_006717091.1:p.Ser214ArgfsTer9
XM_006717028.3:c.642del	XP_006717091.1:p.Ser214ArgfsTer9
XM_006717029.2:c.642del	XP_006717092.1:p.Ser214ArgfsTer9
XM_006717029.3:c.642del	XP_006717092.1:p.Ser214ArgfsTer9
XM_017014560.2:c.489del	XP_016870049.1:p.Ser163ArgfsTer9