Canonical Allele Identifier: CA828092359

Gene: DSP

Linked Data

• dbSNP Id: rs1324412379
• gnomAD v3: 6-7553934-C-CCAAAAAAG
• gnomAD v4: 6-7553934-C-CCAAAAAAG
• MyVariant Identifiers: chr6:g.7554167_7554168insCAAAAAAG (hg19) ; chr6:g.7553934_7553935insCAAAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7553935_7553942dup , CM000668.2:g.7553935_7553942dup	GRCh38
NC_000006.11:g.7554168_7554175dup , CM000668.1:g.7554168_7554175dup	GRCh37
NC_000006.10:g.7499167_7499174dup	NCBI36
NG_008803.1:g.17299_17306dup , LRG_423:g.17299_17306dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683682.2:c.171-1783_171-1776dup	ENSP00000508162.2:n.171-1783_171-1776dup
ENST00000710359.1:c.171-1783_171-1776dup	ENSP00000518230.1:n.171-1783_171-1776dup
ENST00000683563.1:n.63-1783_63-1776dup
ENST00000683682.1:c.66-1783_66-1776dup	ENSP00000508162.1:n.66-1783_66-1776dup
ENST00000379802.8:c.171-1783_171-1776dup MANE Select	ENSP00000369129.3:n.171-1783_171-1776dup
ENST00000379802.7:c.171-1783_171-1776dup	ENSP00000369129.3:n.171-1783_171-1776dup
ENST00000418664.2:c.171-1783_171-1776dup	ENSP00000396591.2:n.171-1783_171-1776dup
NM_001008844.1:c.171-1783_171-1776dup	NP_001008844.1:n.171-1783_171-1776dup
NM_004415.2:c.171-1783_171-1776dup , LRG_423t1:c.171-1783_171-1776dup	NP_004406.2:n.171-1783_171-1776dup
XM_011514323.1:c.171-1783_171-1776dup	XP_011512625.1:n.171-1783_171-1776dup
NM_001008844.2:c.171-1783_171-1776dup	NP_001008844.1:n.171-1783_171-1776dup
NM_001319034.1:c.171-1783_171-1776dup	NP_001305963.1:n.171-1783_171-1776dup
NM_004415.3:c.171-1783_171-1776dup	NP_004406.2:n.171-1783_171-1776dup
NM_004415.4:c.171-1783_171-1776dup MANE Select	NP_004406.2:n.171-1783_171-1776dup
NM_001008844.3:c.171-1783_171-1776dup	NP_001008844.1:n.171-1783_171-1776dup
NM_001319034.2:c.171-1783_171-1776dup	NP_001305963.1:n.171-1783_171-1776dup