Canonical Allele Identifier: CA794017849

Gene: MSANTD1

Linked Data

• dbSNP Id: rs1339946281
• gnomAD v3: 4-3256534-GCT-G
• gnomAD v4: 4-3256534-GCT-G
• MyVariant Identifiers: chr4:g.3258262_3258263del (hg19) ; chr4:g.3256535_3256536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256537_3256538del , CM000666.2:g.3256537_3256538del	GRCh38
NC_000004.11:g.3258264_3258265del , CM000666.1:g.3258264_3258265del	GRCh37
NC_000004.10:g.3228062_3228063del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438480.7:c.*572_*573del MANE Select	ENSP00000411584.2:n.*572_*573del
ENST00000505599.5:c.729+680_729+681del	ENSP00000425405.1:n.729+680_729+681del
ENST00000507492.5:c.*572_*573del	ENSP00000423547.1:n.*572_*573del
ENST00000510580.1:c.765+644_765+645del	ENSP00000420966.1:n.765+644_765+645del
NM_001042690.1:c.*572_*573del	NP_001036155.1:n.*572_*573del
XM_006713883.2:c.*572_*573del	XP_006713946.1:n.*572_*573del
XM_011513464.1:c.729+680_729+681del	XP_011511766.1:n.729+680_729+681del
XM_011513465.1:c.*572_*573del	XP_011511767.1:n.*572_*573del
XM_011513466.1:c.*572_*573del	XP_011511768.1:n.*572_*573del
XM_011513467.1:c.*572_*573del	XP_011511769.1:n.*572_*573del
XR_924950.1:n.753+680_753+681del
NM_001330620.1:c.*572_*573del	NP_001317549.1:n.*572_*573del
XM_011513466.3:c.*572_*573del	XP_011511768.1:n.*572_*573del
XM_011513467.3:c.*572_*573del	XP_011511769.1:n.*572_*573del
NM_001042690.2:c.*572_*573del MANE Select	NP_001036155.1:n.*572_*573del
NM_001330620.2:c.*572_*573del	NP_001317549.1:n.*572_*573del