Canonical Allele Identifier: CA2751317127
Gene: SNRNP200 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293144_96293242del , CM000664.2:g.96293144_96293242del GRCh38
NC_000002.11:g.96958882_96958980del , CM000664.1:g.96958882_96958980del GRCh37
NC_000002.10:g.96322609_96322707del NCBI36
NG_016973.1:g.17320_17418del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2036+76_2037-47del MANE Select ENSP00000317123.5:n.2036+76_2037-47del
ENST00000652267.1:c.2036+76_2037-47del ENSP00000498933.1:n.2036+76_2037-47del
ENST00000323853.9:c.2036+76_2037-47del ENSP00000317123.5:n.2036+76_2037-47del
NM_014014.4:c.2036+76_2037-47del NP_054733.2:n.2036+76_2037-47del
NM_014014.5:c.2036+76_2037-47del MANE Select NP_054733.2:n.2036+76_2037-47del