Canonical Allele Identifier: CA2740094235

Gene: DSP

Linked Data

• ClinVar Variation Id: 2947759
• ClinVar RCV Id: RCV003804389

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7566381_7566382delinsAA , CM000668.2:g.7566381_7566382delinsAA	GRCh38
NC_000006.11:g.7566614_7566615delinsAA , CM000668.1:g.7566614_7566615delinsAA	GRCh37
NC_000006.10:g.7511613_7511614delinsAA	NCBI36
NG_008803.1:g.29745_29746delinsAA , LRG_423:g.29745_29746delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.944_945delinsAA	ENSP00000518230.1:p.Arg315Gln
ENST00000682228.1:n.268_269delinsAA
ENST00000379802.8:c.944_945delinsAA MANE Select	ENSP00000369129.3:p.Arg315Gln
ENST00000379802.7:c.944_945delinsAA	ENSP00000369129.3:p.Arg315Gln
ENST00000418664.2:c.944_945delinsAA	ENSP00000396591.2:p.Arg315Gln
NM_001008844.1:c.944_945delinsAA	NP_001008844.1:p.Arg315Gln
NM_004415.2:c.944_945delinsAA , LRG_423t1:c.944_945delinsAA	NP_004406.2:p.Arg315Gln
XM_011514323.1:c.944_945delinsAA	XP_011512625.1:p.Arg315Gln
NM_001008844.2:c.944_945delinsAA	NP_001008844.1:p.Arg315Gln
NM_001319034.1:c.944_945delinsAA	NP_001305963.1:p.Arg315Gln
NM_004415.3:c.944_945delinsAA	NP_004406.2:p.Arg315Gln
NM_004415.4:c.944_945delinsAA MANE Select	NP_004406.2:p.Arg315Gln
NM_001008844.3:c.944_945delinsAA	NP_001008844.1:p.Arg315Gln
NM_001319034.2:c.944_945delinsAA	NP_001305963.1:p.Arg315Gln