Canonical Allele Identifier: CA597438102

Gene: SMPD1

Linked Data

• gnomAD v2: 11-6411741-C-CACAATCTTTTTTTTTAAAAAT
• gnomAD v3: 11-6390511-C-CACAATCTTTTTTTTTAAAAAT
• gnomAD v4: 11-6390511-C-CACAATCTTTTTTTTTAAAAAT
• MyVariant Identifiers: chr11:g.6411741_6411742insACAATCTTTTTTTTTAAAAAT (hg19) ; chr11:g.6390511_6390512insACAATCTTTTTTTTTAAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390511_6390512insACAATCTTTTTTTTTAAAAAT , CM000673.2:g.6390511_6390512insACAATCTTTTTTTTTAAAAAT	GRCh38
NC_000011.9:g.6411741_6411742insACAATCTTTTTTTTTAAAAAT , CM000673.1:g.6411741_6411742insACAATCTTTTTTTTTAAAAAT	GRCh37
NC_000011.8:g.6368317_6368318insACAATCTTTTTTTTTAAAAAT	NCBI36
NG_011780.1:g.5087_5088insACAATCTTTTTTTTTAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-88_-87insACAATCTTTTTTTTTAAAAAT MANE Select	ENSP00000340409.4:n.-88_-87insACAATCTTTTTTTTTAAAAAT
ENST00000342245.8:c.-88_-87insACAATCTTTTTTTTTAAAAAT	ENSP00000340409.4:n.-88_-87insACAATCTTTTTTTTTAAAAAT
ENST00000527275.5:c.-88_-87insACAATCTTTTTTTTTAAAAAT	ENSP00000435350.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
ENST00000530395.1:c.-224_-223insACAATCTTTTTTTTTAAAAAT	ENSP00000431479.1:n.-224_-223insACAATCTTTTTTTTTAAAAAT
ENST00000533123.5:c.-88_-87insACAATCTTTTTTTTTAAAAAT	ENSP00000435950.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
ENST00000533196.1:n.72_73insACAATCTTTTTTTTTAAAAAT
ENST00000534405.5:c.-88_-87insACAATCTTTTTTTTTAAAAAT	ENSP00000434353.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_000543.4:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_000534.3:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_001007593.2:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001007594.2:n.-88_-87insACAATCTTTTTTTTTAAAAAT
XM_005253075.3:c.-88_-87insACAATCTTTTTTTTTAAAAAT	XP_005253132.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
XM_011520303.1:c.-88_-87insACAATCTTTTTTTTTAAAAAT	XP_011518605.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
XM_011520304.1:c.-88_-87insACAATCTTTTTTTTTAAAAAT	XP_011518606.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
XR_930886.1:n.211_212insACAATCTTTTTTTTTAAAAAT
NM_001318087.1:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001305016.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_001318088.1:c.-1049_-1048insACAATCTTTTTTTTTAAAAAT	NP_001305017.1:n.-1049_-1048insACAATCTTTTTTTTTAAAAAT
NM_001365135.1:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001352064.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NR_027400.2:n.98_99insACAATCTTTTTTTTTAAAAAT
NR_134502.1:n.98_99insACAATCTTTTTTTTTAAAAAT
XM_011520304.2:c.-88_-87insACAATCTTTTTTTTTAAAAAT	XP_011518606.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
XR_001747940.2:n.38_39insACAATCTTTTTTTTTAAAAAT
XR_002957158.1:n.38_39insACAATCTTTTTTTTTAAAAAT
NM_000543.5:c.-88_-87insACAATCTTTTTTTTTAAAAAT MANE Select	NP_000534.3:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_001007593.3:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001007594.2:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_001318087.2:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001305016.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NM_001318088.2:c.-1049_-1048insACAATCTTTTTTTTTAAAAAT	NP_001305017.1:n.-1049_-1048insACAATCTTTTTTTTTAAAAAT
NM_001365135.2:c.-88_-87insACAATCTTTTTTTTTAAAAAT	NP_001352064.1:n.-88_-87insACAATCTTTTTTTTTAAAAAT
NR_027400.3:n.38_39insACAATCTTTTTTTTTAAAAAT
NR_134502.2:n.38_39insACAATCTTTTTTTTTAAAAAT