Canonical Allele Identifier: CA1085719682

Gene: DSP

Linked Data

• dbSNP Id: rs10658102
• gnomAD v3: 6-7554082-A-AACACACACACACACACACACACACACAC
• gnomAD v4: 6-7554082-A-AACACACACACACACACACACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7554099_7554126dup , CM000668.2:g.7554099_7554126dup	GRCh38
NC_000006.11:g.7554332_7554359dup , CM000668.1:g.7554332_7554359dup	GRCh37
NC_000006.10:g.7499331_7499358dup	NCBI36
NG_008803.1:g.17463_17490dup , LRG_423:g.17463_17490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.171-1619_171-1592dup	ENSP00000508162.2:n.171-1619_171-1592dup
ENST00000710359.1:c.171-1619_171-1592dup	ENSP00000518230.1:n.171-1619_171-1592dup
ENST00000683563.1:n.63-1619_63-1592dup
ENST00000683682.1:c.66-1619_66-1592dup	ENSP00000508162.1:n.66-1619_66-1592dup
ENST00000379802.8:c.171-1619_171-1592dup MANE Select	ENSP00000369129.3:n.171-1619_171-1592dup
ENST00000379802.7:c.171-1619_171-1592dup	ENSP00000369129.3:n.171-1619_171-1592dup
ENST00000418664.2:c.171-1619_171-1592dup	ENSP00000396591.2:n.171-1619_171-1592dup
NM_001008844.1:c.171-1619_171-1592dup	NP_001008844.1:n.171-1619_171-1592dup
NM_004415.2:c.171-1619_171-1592dup , LRG_423t1:c.171-1619_171-1592dup	NP_004406.2:n.171-1619_171-1592dup
XM_011514323.1:c.171-1619_171-1592dup	XP_011512625.1:n.171-1619_171-1592dup
NM_001008844.2:c.171-1619_171-1592dup	NP_001008844.1:n.171-1619_171-1592dup
NM_001319034.1:c.171-1619_171-1592dup	NP_001305963.1:n.171-1619_171-1592dup
NM_004415.3:c.171-1619_171-1592dup	NP_004406.2:n.171-1619_171-1592dup
NM_004415.4:c.171-1619_171-1592dup MANE Select	NP_004406.2:n.171-1619_171-1592dup
NM_001008844.3:c.171-1619_171-1592dup	NP_001008844.1:n.171-1619_171-1592dup
NM_001319034.2:c.171-1619_171-1592dup	NP_001305963.1:n.171-1619_171-1592dup