Canonical Allele Identifier: CA2677221030

Gene: DSP

Linked Data

• gnomAD v4: 6-7585207-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585209dup , CM000668.2:g.7585209dup	GRCh38
NC_000006.11:g.7585442dup , CM000668.1:g.7585442dup	GRCh37
NC_000006.10:g.7530441dup	NCBI36
NG_008803.1:g.48573dup , LRG_423:g.48573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6618dup	ENSP00000518230.1:p.Leu2207AlafsTer?
ENST00000379802.8:c.7947dup MANE Select	ENSP00000369129.3:p.Leu2650AlafsTer?
ENST00000379802.7:c.7947dup	ENSP00000369129.3:p.Leu2650AlafsTer?
ENST00000418664.2:c.6150dup	ENSP00000396591.2:p.Leu2051AlafsTer?
NM_001008844.1:c.6150dup	NP_001008844.1:p.Leu2051AlafsTer?
NM_004415.2:c.7947dup , LRG_423t1:c.7947dup	NP_004406.2:p.Leu2650AlafsTer?
XM_011514323.1:c.6618dup	XP_011512625.1:p.Leu2207AlafsTer?
NM_001008844.2:c.6150dup	NP_001008844.1:p.Leu2051AlafsTer?
NM_001319034.1:c.6618dup	NP_001305963.1:p.Leu2207AlafsTer?
NM_004415.3:c.7947dup	NP_004406.2:p.Leu2650AlafsTer?
NM_004415.4:c.7947dup MANE Select	NP_004406.2:p.Leu2650AlafsTer?
NM_001008844.3:c.6150dup	NP_001008844.1:p.Leu2051AlafsTer?
NM_001319034.2:c.6618dup	NP_001305963.1:p.Leu2207AlafsTer?