Canonical Allele Identifier: CA828075218

Gene: DSP

Linked Data

• dbSNP Id: rs1259951364
• gnomAD v3: 6-7576859-G-GA
• gnomAD v4: 6-7576859-G-GA
• MyVariant Identifiers: chr6:g.7577092_7577093insA (hg19) ; chr6:g.7576859_7576860insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7576865dup , CM000668.2:g.7576865dup	GRCh38
NC_000006.11:g.7577098dup , CM000668.1:g.7577098dup	GRCh37
NC_000006.10:g.7522097dup	NCBI36
NG_008803.1:g.40229dup , LRG_423:g.40229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.2794-94dup	ENSP00000518230.1:n.2794-94dup
ENST00000379802.8:c.2794-94dup MANE Select	ENSP00000369129.3:n.2794-94dup
ENST00000379802.7:c.2794-94dup	ENSP00000369129.3:n.2794-94dup
ENST00000418664.2:c.2794-94dup	ENSP00000396591.2:n.2794-94dup
NM_001008844.1:c.2794-94dup	NP_001008844.1:n.2794-94dup
NM_004415.2:c.2794-94dup , LRG_423t1:c.2794-94dup	NP_004406.2:n.2794-94dup
XM_011514323.1:c.2794-94dup	XP_011512625.1:n.2794-94dup
NM_001008844.2:c.2794-94dup	NP_001008844.1:n.2794-94dup
NM_001319034.1:c.2794-94dup	NP_001305963.1:n.2794-94dup
NM_004415.3:c.2794-94dup	NP_004406.2:n.2794-94dup
NM_004415.4:c.2794-94dup MANE Select	NP_004406.2:n.2794-94dup
NM_001008844.3:c.2794-94dup	NP_001008844.1:n.2794-94dup
NM_001319034.2:c.2794-94dup	NP_001305963.1:n.2794-94dup