Canonical Allele Identifier: CA288437853

Gene: SHMT1

Linked Data

• dbSNP Id: rs992639703
• gnomAD v2: 17-18232092-AAG-A
• gnomAD v4: 17-18328778-AAG-A
• MyVariant Identifiers: chr17:g.18232093_18232094del (hg19) ; chr17:g.18328779_18328780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328785_18328786del , CM000679.2:g.18328785_18328786del	GRCh38
NC_000017.10:g.18232099_18232100del , CM000679.1:g.18232099_18232100del	GRCh37
NC_000017.9:g.18172824_18172825del	NCBI36
NG_017111.1:g.39763_39764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1422_1423del	ENSP00000462041.2:p.Phe475ProfsTer7
ENST00000316694.8:c.1422_1423del MANE Select	ENSP00000318868.3:p.Phe475ProfsTer7
ENST00000316694.7:c.1422_1423del	ENSP00000318868.3:p.Phe475ProfsTer7
ENST00000352886.10:c.1008_1009del	ENSP00000345881.7:p.Phe337ProfsTer7
ENST00000354098.7:c.1305_1306del	ENSP00000318805.3:p.Phe436ProfsTer7
ENST00000395684.5:n.1745_1746del
ENST00000580002.5:c.*919_*920del	ENSP00000462043.1:n.*919_*920del
NM_001281786.1:c.1008_1009del	NP_001268715.1:p.Phe337ProfsTer7
NM_004169.4:c.1422_1423del	NP_004160.3:p.Phe475ProfsTer7
NM_148918.2:c.1305_1306del	NP_683718.1:p.Phe436ProfsTer7
XM_005256767.2:c.1422_1423del	XP_005256824.1:p.Phe475ProfsTer7
XM_011523992.1:c.1182_1183del	XP_011522294.1:p.Phe395ProfsTer7
XM_005256767.3:c.1422_1423del	XP_005256824.1:p.Phe475ProfsTer7
XM_011523992.3:c.1182_1183del	XP_011522294.1:p.Phe395ProfsTer7
XM_017024957.1:c.1422_1423del	XP_016880446.1:p.Phe475ProfsTer7
XM_017024958.1:c.1305_1306del	XP_016880447.1:p.Phe436ProfsTer7
XM_024450887.1:c.1182_1183del	XP_024306655.1:p.Phe395ProfsTer7
XM_024450888.1:c.1008_1009del	XP_024306656.1:p.Phe337ProfsTer7
XM_024450889.1:c.891_892del	XP_024306657.1:p.Phe298ProfsTer7
XM_024450890.1:c.768_769del	XP_024306658.1:p.Phe257ProfsTer7
NM_004169.5:c.1422_1423del MANE Select	NP_004160.3:p.Phe475ProfsTer7
NM_001281786.2:c.1008_1009del	NP_001268715.1:p.Phe337ProfsTer7
NM_148918.3:c.1305_1306del	NP_683718.1:p.Phe436ProfsTer7