Canonical Allele Identifier: CA2841197230
Community Standard Title: NM_014975.3(MAST1):c.-6del

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12838567del , CM000681.2:g.12838567del GRCh38
NC_000019.9:g.12949381del , CM000681.1:g.12949381del GRCh37
NC_000019.8:g.12810381del NCBI36
NG_054729.1:g.9637del

Transcript Alleles

HGVS Amino-acid Change
NM_014975.3:c.-6del (MAST1) MANE Select NP_055790.1:n.-6del
ENST00000251472.9:c.-6del (MAST1) MANE Select ENSP00000251472.3:n.-6del
NM_014975.2:c.-6del (MAST1) NP_055790.1:n.-6del
ENST00000251472.8:c.-6del (MAST1) ENSP00000251472.3:n.-6del
ENST00000589765.1:n.33-12066del (HOOK2)
ENST00000590883.1:n.95del (MAST1)
ENST00000591495.5:c.71+267del (MAST1) ENSP00000466470.1:n.71+267del
ENST00000591495.6:c.71+267del (MAST1) ENSP00000466470.1:n.71+267del
XM_011527805.1:c.71+267del (MAST1) XP_011526107.1:n.71+267del
XM_011527805.2:c.71+267del (MAST1) XP_011526107.1:n.71+267del
XM_011527806.1:c.39+4561del (MAST1) XP_011526108.1:n.39+4561del