Canonical Allele Identifier: CA923726089

Gene: DSP

Linked Data

• gnomAD v4: 6-7584372-ACAGATCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584375_7584381del , CM000668.2:g.7584375_7584381del	GRCh38
NC_000006.11:g.7584608_7584614del , CM000668.1:g.7584608_7584614del	GRCh37
NC_000006.10:g.7529607_7529613del	NCBI36
NG_008803.1:g.47739_47745del , LRG_423:g.47739_47745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5784_5790del	ENSP00000518230.1:p.Ile1929ProfsTer17
ENST00000379802.8:c.7113_7119del MANE Select	ENSP00000369129.3:p.Ile2372ProfsTer17
ENST00000379802.7:c.7113_7119del	ENSP00000369129.3:p.Ile2372ProfsTer17
ENST00000418664.2:c.5316_5322del	ENSP00000396591.2:p.Ile1773ProfsTer17
NM_001008844.1:c.5316_5322del	NP_001008844.1:p.Ile1773ProfsTer17
NM_004415.2:c.7113_7119del , LRG_423t1:c.7113_7119del	NP_004406.2:p.Ile2372ProfsTer17
XM_011514323.1:c.5784_5790del	XP_011512625.1:p.Ile1929ProfsTer17
NM_001008844.2:c.5316_5322del	NP_001008844.1:p.Ile1773ProfsTer17
NM_001319034.1:c.5784_5790del	NP_001305963.1:p.Ile1929ProfsTer17
NM_004415.3:c.7113_7119del	NP_004406.2:p.Ile2372ProfsTer17
NM_004415.4:c.7113_7119del MANE Select	NP_004406.2:p.Ile2372ProfsTer17
NM_001008844.3:c.5316_5322del	NP_001008844.1:p.Ile1773ProfsTer17
NM_001319034.2:c.5784_5790del	NP_001305963.1:p.Ile1929ProfsTer17