Canonical Allele Identifier: CA597438320

Gene: SMPD1

Linked Data

• dbSNP Id: rs1194457370
• gnomAD v2: 11-6414505-TGAA-T
• gnomAD v4: 11-6393275-TGAA-T
• MyVariant Identifiers: chr11:g.6414506_6414508del (hg19) ; chr11:g.6393276_6393278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393276_6393278del , CM000673.2:g.6393276_6393278del	GRCh38
NC_000011.9:g.6414506_6414508del , CM000673.1:g.6414506_6414508del	GRCh37
NC_000011.8:g.6371082_6371084del	NCBI36
NG_011780.1:g.7852_7854del
NG_029615.1:g.31137_31139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1152_1154del MANE Select	ENSP00000340409.4:p.Met384_Asn385delinsIl...
ENST00000342245.8:c.1152_1154del	ENSP00000340409.4:p.Met384_Asn385delinsIl...
ENST00000526280.1:c.321-341_321-339del
ENST00000527275.5:c.1149_1151del	ENSP00000435350.1:p.Met383_Asn384delinsIl...
ENST00000531303.5:c.499_501del	ENSP00000432625.1:p.Glu167del
ENST00000533123.5:c.1092-341_1092-339del	ENSP00000435950.1:n.1092-341_1092-339del
ENST00000534405.5:c.1192_1194del	ENSP00000434353.1:p.Glu398del
NM_000543.4:c.1152_1154del	NP_000534.3:p.Met384_Asn385delinsIle
NM_001007593.2:c.1149_1151del	NP_001007594.2:p.Met383_Asn384delinsIle
XM_005253075.3:c.1152_1154del	XP_005253132.1:p.Met384_Asn385delinsIle
XM_011520303.1:c.1132-341_1132-339del	XP_011518605.1:n.1132-341_1132-339del
XM_011520304.1:c.1132-341_1132-339del	XP_011518606.1:n.1132-341_1132-339del
XR_930886.1:n.1490_1492del
NM_001318087.1:c.1152_1154del	NP_001305016.1:p.Met384_Asn385delinsIle
NM_001318088.1:c.231_233del	NP_001305017.1:p.Met77_Asn78delinsIle
NM_001365135.1:c.1132-341_1132-339del	NP_001352064.1:n.1132-341_1132-339del
NR_027400.2:n.1277-341_1277-339del
NR_134502.1:n.684_686del
XM_011520304.2:c.1132-341_1132-339del	XP_011518606.1:n.1132-341_1132-339del
XR_001747940.2:n.1317_1319del
XR_002957158.1:n.1317_1319del
NM_000543.5:c.1152_1154del MANE Select	NP_000534.3:p.Met384_Asn385delinsIle
NM_001007593.3:c.1149_1151del	NP_001007594.2:p.Met383_Asn384delinsIle
NM_001318087.2:c.1152_1154del	NP_001305016.1:p.Met384_Asn385delinsIle
NM_001318088.2:c.231_233del	NP_001305017.1:p.Met77_Asn78delinsIle
NM_001365135.2:c.1132-341_1132-339del	NP_001352064.1:n.1132-341_1132-339del
NR_027400.3:n.1217-341_1217-339del
NR_134502.2:n.624_626del