Canonical Allele Identifier: CA2636488176

Gene: SHMT1

Linked Data

• gnomAD v4: 17-18328783-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328784del , CM000679.2:g.18328784del	GRCh38
NC_000017.10:g.18232098del , CM000679.1:g.18232098del	GRCh37
NC_000017.9:g.18172823del	NCBI36
NG_017111.1:g.39759del

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1418del	ENSP00000462041.2:p.Ser473PhefsTer?
ENST00000316694.8:c.1418del MANE Select	ENSP00000318868.3:p.Ser473PhefsTer?
ENST00000316694.7:c.1418del	ENSP00000318868.3:p.Ser473PhefsTer?
ENST00000352886.10:c.1004del	ENSP00000345881.7:p.Ser335PhefsTer?
ENST00000354098.7:c.1301del	ENSP00000318805.3:p.Ser434PhefsTer?
ENST00000395684.5:n.1741del
ENST00000580002.5:c.*915del	ENSP00000462043.1:n.*915del
NM_001281786.1:c.1004del	NP_001268715.1:p.Ser335PhefsTer?
NM_004169.4:c.1418del	NP_004160.3:p.Ser473PhefsTer?
NM_148918.2:c.1301del	NP_683718.1:p.Ser434PhefsTer?
XM_005256767.2:c.1418del	XP_005256824.1:p.Ser473PhefsTer?
XM_011523992.1:c.1178del	XP_011522294.1:p.Ser393PhefsTer?
XM_005256767.3:c.1418del	XP_005256824.1:p.Ser473PhefsTer?
XM_011523992.3:c.1178del	XP_011522294.1:p.Ser393PhefsTer?
XM_017024957.1:c.1418del	XP_016880446.1:p.Ser473PhefsTer?
XM_017024958.1:c.1301del	XP_016880447.1:p.Ser434PhefsTer?
XM_024450887.1:c.1178del	XP_024306655.1:p.Ser393PhefsTer?
XM_024450888.1:c.1004del	XP_024306656.1:p.Ser335PhefsTer?
XM_024450889.1:c.887del	XP_024306657.1:p.Ser296PhefsTer?
XM_024450890.1:c.764del	XP_024306658.1:p.Ser255PhefsTer?
NM_004169.5:c.1418del MANE Select	NP_004160.3:p.Ser473PhefsTer?
NM_001281786.2:c.1004del	NP_001268715.1:p.Ser335PhefsTer?
NM_148918.3:c.1301del	NP_683718.1:p.Ser434PhefsTer?