Canonical Allele Identifier: CA2580614825

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580941_7580942del , CM000668.2:g.7580941_7580942del	GRCh38
NC_000006.11:g.7581174_7581175del , CM000668.1:g.7581174_7581175del	GRCh37
NC_000006.10:g.7526173_7526174del	NCBI36
NG_008803.1:g.44305_44306del , LRG_423:g.44305_44306del

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.4751_4752del MANE Select	NP_004406.2:p.Ala1584ValfsTer?
ENST00000379802.8:c.4751_4752del MANE Select	ENSP00000369129.3:p.Ala1584ValfsTer?
NM_001008844.1:c.3582+1169_3582+1170del	NP_001008844.1:n.3582+1169_3582+1170del
NM_001008844.2:c.3582+1169_3582+1170del	NP_001008844.1:n.3582+1169_3582+1170del
NM_001008844.3:c.3582+1169_3582+1170del	NP_001008844.1:n.3582+1169_3582+1170del
NM_001319034.1:c.4050+701_4050+702del	NP_001305963.1:n.4050+701_4050+702del
NM_001319034.2:c.4050+701_4050+702del	NP_001305963.1:n.4050+701_4050+702del
NM_004415.2:c.4751_4752del , LRG_423t1:c.4751_4752del	NP_004406.2:p.Ala1584ValfsTer?
NM_004415.3:c.4751_4752del	NP_004406.2:p.Ala1584ValfsTer?
ENST00000379802.7:c.4751_4752del	ENSP00000369129.3:p.Ala1584ValfsTer?
ENST00000418664.2:c.3582+1169_3582+1170del	ENSP00000396591.2:n.3582+1169_3582+1170del
ENST00000710359.1:c.4050+701_4050+702del	ENSP00000518230.1:n.4050+701_4050+702del
XM_011514323.1:c.4050+701_4050+702del	XP_011512625.1:n.4050+701_4050+702del