Canonical Allele Identifier: CA175121

Gene: SPRTN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231351571_231351574del , CM000663.2:g.231351571_231351574del	GRCh38
NC_000001.10:g.231487317_231487320del , CM000663.1:g.231487317_231487320del	GRCh37
NC_000001.9:g.229553940_229553943del	NCBI36
NG_042052.1:g.18636_18639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295050.12:c.718_718+3del
ENST00000008440.9:c.589_592del	ENSP00000008440.9:p.Gly197ProfsTer7
ENST00000295050.11:c.718_718+3del
ENST00000366644.3:c.406_406+3del
ENST00000391858.8:c.718_721del	ENSP00000375731.4:p.Gly240ProfsTer7
ENST00000469904.1:n.517_517+3del
NM_001010984.2:c.718_721del	NP_001010984.1:p.Gly240ProfsTer7
NM_001010984.3:c.718_721del	NP_001010984.1:p.Gly240ProfsTer7
NM_001261462.1:c.589_592del	NP_001248391.1:p.Gly197ProfsTer7
NM_001261462.2:c.589_592del	NP_001248391.1:p.Gly197ProfsTer7
NM_032018.5:c.718_718+3del
NM_032018.6:c.718_718+3del
XM_005273284.2:c.718_718+3del
XM_005273285.2:c.718_718+3del
XM_006711818.2:c.589_589+3del
XM_011544288.1:c.541_541+3del
XM_011544289.1:c.334_334+3del
XM_006711818.3:c.589_589+3del
XM_011544289.2:c.334_334+3del
NM_032018.7:c.718_718+3del
NM_001010984.4:c.718_721del	NP_001010984.1:p.Gly240ProfsTer7
NM_001261462.3:c.589_592del	NP_001248391.1:p.Gly197ProfsTer7