Canonical Allele Identifier: CA2677220612

Gene: DSP

Linked Data

• gnomAD v4: 6-7584968-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584977_7584979dup , CM000668.2:g.7584977_7584979dup	GRCh38
NC_000006.11:g.7585210_7585212dup , CM000668.1:g.7585210_7585212dup	GRCh37
NC_000006.10:g.7530209_7530211dup	NCBI36
NG_008803.1:g.48341_48343dup , LRG_423:g.48341_48343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6386_6388dup	ENSP00000518230.1:p.Ser2129_Met2130insSer
ENST00000379802.8:c.7715_7717dup MANE Select	ENSP00000369129.3:p.Ser2572_Met2573insSer
ENST00000379802.7:c.7715_7717dup	ENSP00000369129.3:p.Ser2572_Met2573insSer
ENST00000418664.2:c.5918_5920dup	ENSP00000396591.2:p.Ser1973_Met1974insSer
NM_001008844.1:c.5918_5920dup	NP_001008844.1:p.Ser1973_Met1974insSer
NM_004415.2:c.7715_7717dup , LRG_423t1:c.7715_7717dup	NP_004406.2:p.Ser2572_Met2573insSer
XM_011514323.1:c.6386_6388dup	XP_011512625.1:p.Ser2129_Met2130insSer
NM_001008844.2:c.5918_5920dup	NP_001008844.1:p.Ser1973_Met1974insSer
NM_001319034.1:c.6386_6388dup	NP_001305963.1:p.Ser2129_Met2130insSer
NM_004415.3:c.7715_7717dup	NP_004406.2:p.Ser2572_Met2573insSer
NM_004415.4:c.7715_7717dup MANE Select	NP_004406.2:p.Ser2572_Met2573insSer
NM_001008844.3:c.5918_5920dup	NP_001008844.1:p.Ser1973_Met1974insSer
NM_001319034.2:c.6386_6388dup	NP_001305963.1:p.Ser2129_Met2130insSer