Canonical Allele Identifier: CA577830235

Gene: NUP205

Linked Data

• dbSNP Id: rs1423268125
• gnomAD v2: 7-135329912-CAT-C
• gnomAD v3: 7-135645164-CAT-C
• gnomAD v4: 7-135645164-CAT-C
• MyVariant Identifiers: chr7:g.135329913_135329914del (hg19) ; chr7:g.135645165_135645166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645166_135645167del , CM000669.2:g.135645166_135645167del	GRCh38
NC_000007.13:g.135329914_135329915del , CM000669.1:g.135329914_135329915del	GRCh37
NC_000007.12:g.134980454_134980455del	NCBI36
NG_051184.1:g.92253_92254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5683+148_5683+149del MANE Select	ENSP00000285968.6:n.5683+148_5683+149del
ENST00000285968.10:c.5683+148_5683+149del	ENSP00000285968.6:n.5683+148_5683+149del
ENST00000461255.5:n.890+148_890+149del
ENST00000477620.5:c.1405+188_1405+189del
ENST00000490439.1:c.120+148_120+149del
ENST00000607647.5:n.3961+148_3961+149del
NM_015135.2:c.5683+148_5683+149del	NP_055950.1:n.5683+148_5683+149del
XM_005250235.2:c.4609+148_4609+149del	XP_005250292.1:n.4609+148_4609+149del
NM_001329434.1:c.4609+148_4609+149del	NP_001316363.1:n.4609+148_4609+149del
NM_015135.3:c.5683+148_5683+149del MANE Select	NP_055950.2:n.5683+148_5683+149del
NM_001329434.2:c.4609+148_4609+149del	NP_001316363.2:n.4609+148_4609+149del