Canonical Allele Identifier: CA2695213113

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394232_6394242del , CM000673.2:g.6394232_6394242del	GRCh38
NC_000011.9:g.6415462_6415472del , CM000673.1:g.6415462_6415472del	GRCh37
NC_000011.8:g.6372038_6372048del	NCBI36
NG_011780.1:g.8808_8818del
NG_029615.1:g.30176_30186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1521_1531del MANE Select	ENSP00000340409.4:p.Gly508ArgfsTer6
ENST00000342245.8:c.1521_1531del	ENSP00000340409.4:p.Gly508ArgfsTer6
ENST00000526280.1:c.578_588del
ENST00000527275.5:c.1518_1528del	ENSP00000435350.1:p.Gly507ArgfsTer6
ENST00000531303.5:c.*372_*382del	ENSP00000432625.1:n.*372_*382del
ENST00000531336.1:n.509_519del
ENST00000533123.5:c.*248_*258del	ENSP00000435950.1:n.*248_*258del
ENST00000534405.5:c.*352_*362del	ENSP00000434353.1:n.*352_*362del
NM_000543.4:c.1521_1531del	NP_000534.3:p.Gly508ArgfsTer6
NM_001007593.2:c.1518_1528del	NP_001007594.2:p.Gly507ArgfsTer6
XM_005253075.3:c.*14_*24del	XP_005253132.1:n.*14_*24del
XM_011520303.1:c.1389_1399del	XP_011518605.1:p.Gly464ArgfsTer6
XM_011520304.1:c.*14_*24del	XP_011518606.1:n.*14_*24del
NM_001318087.1:c.*14_*24del	NP_001305016.1:n.*14_*24del
NM_001318088.1:c.600_610del	NP_001305017.1:p.Gly201ArgfsTer6
NM_001365135.1:c.1389_1399del	NP_001352064.1:p.Gly464ArgfsTer6
NR_027400.2:n.1534_1544del
NR_134502.1:n.1073_1083del
XM_011520304.2:c.*14_*24del	XP_011518606.1:n.*14_*24del
XR_001747940.2:n.1706_1716del
XR_002957158.1:n.1888_1898del
NM_000543.5:c.1521_1531del MANE Select	NP_000534.3:p.Gly508ArgfsTer6
NM_001007593.3:c.1518_1528del	NP_001007594.2:p.Gly507ArgfsTer6
NM_001318087.2:c.*14_*24del	NP_001305016.1:n.*14_*24del
NM_001318088.2:c.600_610del	NP_001305017.1:p.Gly201ArgfsTer6
NM_001365135.2:c.1389_1399del	NP_001352064.1:p.Gly464ArgfsTer6
NR_027400.3:n.1474_1484del
NR_134502.2:n.1013_1023del