Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50936285_50936286del , CM000682.2:g.50936285_50936286del	GRCh38
NC_000020.10:g.49552822_49552823del , CM000682.1:g.49552822_49552823del	GRCh37
NC_000020.9:g.48986229_48986230del	NCBI36
NG_008923.1:g.27244_27245del

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.564-18_564-17del (DPM1) MANE Select	NP_003850.1:n.564-18_564-17del
ENST00000371588.10:c.564-18_564-17del (DPM1) MANE Select	ENSP00000360644.5:n.564-18_564-17del
NM_001317034.1:c.669-18_669-17del (DPM1)	NP_001303963.1:n.669-18_669-17del
NM_001317035.1:c.645-18_645-17del (DPM1)	NP_001303964.1:n.645-18_645-17del
NM_001317036.1:c.495-18_495-17del (DPM1)	NP_001303965.1:n.495-18_495-17del
NM_003859.1:c.564-18_564-17del (DPM1)	NP_003850.1:n.564-18_564-17del
NM_003859.2:c.564-18_564-17del (DPM1)	NP_003850.1:n.564-18_564-17del
NR_110007.1:n.250+2458_250+2459del (ADNP-AS1)
NR_110008.1:n.149+4836_149+4837del (ADNP-AS1)
NR_110009.1:n.146+4836_146+4837del (ADNP-AS1)
NR_133648.1:n.627-18_627-17del (DPM1)
NR_133648.2:n.595-18_595-17del (DPM1)
ENST00000371582.8:c.645-18_645-17del (DPM1)	ENSP00000360638.4:n.645-18_645-17del
ENST00000371584.8:c.667-18_667-17del (DPM1)
ENST00000371584.9:c.669-18_669-17del (DPM1)	ENSP00000360640.5:n.669-18_669-17del
ENST00000371588.9:c.564-18_564-17del (DPM1)	ENSP00000360644.5:n.564-18_564-17del
ENST00000413082.1:c.549-18_549-17del (DPM1)	ENSP00000394921.1:n.549-18_549-17del
ENST00000466152.5:n.613-18_613-17del (DPM1)
ENST00000494752.1:n.334-18_334-17del (DPM1)
ENST00000681979.1:n.542-18_542-17del (DPM1)
ENST00000682366.1:n.909-18_909-17del (DPM1)
ENST00000682713.1:n.1044-18_1044-17del (DPM1)
ENST00000683048.1:c.79-18_79-17del (DPM1)	ENSP00000506986.1:n.79-18_79-17del
ENST00000683466.1:c.180-18_180-17del (DPM1)	ENSP00000507404.1:n.180-18_180-17del
ENST00000684193.1:n.1335-18_1335-17del (DPM1)
ENST00000684708.1:n.599-18_599-17del (DPM1)
XR_002958550.1:n.627-18_627-17del (DPM1)
XR_002958551.1:n.508-18_508-17del (DPM1)