Canonical Allele Identifier: CA167066908

Gene: NUP205

Linked Data

• dbSNP Id: rs886287653
• gnomAD v2: 7-135330084-CCTGT-C
• gnomAD v3: 7-135645336-CCTGT-C
• gnomAD v4: 7-135645336-CCTGT-C
• MyVariant Identifiers: chr7:g.135330085_135330088del (hg19) ; chr7:g.135645337_135645340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645341_135645344del , CM000669.2:g.135645341_135645344del	GRCh38
NC_000007.13:g.135330089_135330092del , CM000669.1:g.135330089_135330092del	GRCh37
NC_000007.12:g.134980629_134980632del	NCBI36
NG_051184.1:g.92428_92431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-127_5684-124del MANE Select	ENSP00000285968.6:n.5684-127_5684-124del
ENST00000285968.10:c.5684-127_5684-124del	ENSP00000285968.6:n.5684-127_5684-124del
ENST00000461255.5:n.891-127_891-124del
ENST00000477620.5:c.1405+363_1405+366del
ENST00000490439.1:c.120+323_120+326del
ENST00000607647.5:n.3962-127_3962-124del
NM_015135.2:c.5684-127_5684-124del	NP_055950.1:n.5684-127_5684-124del
XM_005250235.2:c.4610-127_4610-124del	XP_005250292.1:n.4610-127_4610-124del
NM_001329434.1:c.4610-127_4610-124del	NP_001316363.1:n.4610-127_4610-124del
NM_015135.3:c.5684-127_5684-124del MANE Select	NP_055950.2:n.5684-127_5684-124del
NM_001329434.2:c.4610-127_4610-124del	NP_001316363.2:n.4610-127_4610-124del