Canonical Allele Identifier: CA2988734925
Community Standard Title: NM_144991.3(TSPEAR):c.304-6118_304-6116del
Gene: TSPEAR HGNC NCBI
KRTAP10-1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44540039_44540041del , CM000683.2:g.44540039_44540041del GRCh38
NC_000021.8:g.45959922_45959924del , CM000683.1:g.45959922_45959924del GRCh37
NC_000021.7:g.44784350_44784352del NCBI36
NG_033806.1:g.176538_176540del

Transcript Alleles

HGVS Amino-acid Change
NM_144991.3:c.304-6118_304-6116del (TSPEAR) MANE Select NP_659428.2:n.304-6118_304-6116del
NM_198691.3:c.110_112del (KRTAP10-1) MANE Select NP_941964.2:p.Cys37_Ala38delinsSer
ENST00000323084.9:c.304-6118_304-6116del (TSPEAR) MANE Select ENSP00000321987.4:n.304-6118_304-6116del
ENST00000400375.1:c.110_112del (KRTAP10-1) MANE Select ENSP00000383226.1:p.Cys37_Ala38delinsSer
NM_001272037.1:c.100-6118_100-6116del (TSPEAR) NP_001258966.1:n.100-6118_100-6116del
NM_001272037.2:c.100-6118_100-6116del (TSPEAR) NP_001258966.1:n.100-6118_100-6116del
NM_144991.2:c.304-6118_304-6116del (TSPEAR) NP_659428.2:n.304-6118_304-6116del
NM_198691.2:c.110_112del (KRTAP10-1) NP_941964.2:p.Cys37_Ala38delinsSer
ENST00000323084.8:c.304-6118_304-6116del (TSPEAR) ENSP00000321987.4:n.304-6118_304-6116del
ENST00000397916.1:c.100-6118_100-6116del (TSPEAR) ENSP00000381012.1:n.100-6118_100-6116del
ENST00000613245.4:c.304-6118_304-6116del (TSPEAR) ENSP00000478010.1:n.304-6118_304-6116del
ENST00000614657.4:c.100-6118_100-6116del (TSPEAR) ENSP00000482422.1:n.100-6118_100-6116del
ENST00000642437.1:c.*249-6118_*249-6116del (TSPEAR) ENSP00000496535.1:n.*249-6118_*249-6116del