Canonical Allele Identifier: CA2660185963

Gene: SNRNP200

Linked Data

• gnomAD v4: 2-96292845-CATAGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96292849_96292855del , CM000664.2:g.96292849_96292855del	GRCh38
NC_000002.11:g.96958587_96958593del , CM000664.1:g.96958587_96958593del	GRCh37
NC_000002.10:g.96322314_96322320del	NCBI36
NG_016973.1:g.17708_17714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2160+120_2160+126del MANE Select	ENSP00000317123.5:n.2160+120_2160+126del
ENST00000652267.1:c.2160+120_2160+126del	ENSP00000498933.1:n.2160+120_2160+126del
ENST00000323853.9:c.2160+120_2160+126del	ENSP00000317123.5:n.2160+120_2160+126del
NM_014014.4:c.2160+120_2160+126del	NP_054733.2:n.2160+120_2160+126del
NM_014014.5:c.2160+120_2160+126del MANE Select	NP_054733.2:n.2160+120_2160+126del