Canonical Allele Identifier: CA2612224287

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394793-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394794_6394795del , CM000673.2:g.6394794_6394795del	GRCh38
NC_000011.9:g.6416024_6416025del , CM000673.1:g.6416024_6416025del	GRCh37
NC_000011.8:g.6372600_6372601del	NCBI36
NG_011780.1:g.9370_9371del
NG_029615.1:g.29620_29621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*187_*188del MANE Select	ENSP00000340409.4:n.*187_*188del
ENST00000342245.8:c.*187_*188del	ENSP00000340409.4:n.*187_*188del
ENST00000526280.1:c.1140_1141del
ENST00000533123.5:c.*810_*811del	ENSP00000435950.1:n.*810_*811del
ENST00000534405.5:c.*914_*915del	ENSP00000434353.1:n.*914_*915del
NM_000543.4:c.*187_*188del	NP_000534.3:n.*187_*188del
NM_001007593.2:c.*187_*188del	NP_001007594.2:n.*187_*188del
XM_011520303.1:c.*187_*188del	XP_011518605.1:n.*187_*188del
NM_001318087.1:c.*576_*577del	NP_001305016.1:n.*576_*577del
NM_001318088.1:c.*187_*188del	NP_001305017.1:n.*187_*188del
NM_001365135.1:c.*187_*188del	NP_001352064.1:n.*187_*188del
NR_027400.2:n.2096_2097del
NR_134502.1:n.1635_1636del
XR_001747940.2:n.2268_2269del
XR_002957158.1:n.2450_2451del
NM_000543.5:c.*187_*188del MANE Select	NP_000534.3:n.*187_*188del
NM_001007593.3:c.*187_*188del	NP_001007594.2:n.*187_*188del
NM_001318087.2:c.*576_*577del	NP_001305016.1:n.*576_*577del
NM_001318088.2:c.*187_*188del	NP_001305017.1:n.*187_*188del
NM_001365135.2:c.*187_*188del	NP_001352064.1:n.*187_*188del
NR_027400.3:n.2036_2037del
NR_134502.2:n.1575_1576del