Canonical Allele Identifier: CA312707
Gene: MMAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203815

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145646016_145646019del , CM000666.2:g.145646016_145646019del GRCh38
NC_000004.11:g.146567168_146567171del , CM000666.1:g.146567168_146567171del GRCh37
NC_000004.10:g.146786618_146786621del NCBI36
NG_007536.1:g.31719_31722del

Transcript Alleles

HGVS Amino-acid change
NM_172250.2:c.593_596del VV NP_758454.1:p.Thr198SerfsTer6
XM_011531684.1:c.593_596del XP_011529986.1:p.Thr198SerfsTer6
XM_011531685.1:c.593_596del XP_011529987.1:p.Thr198SerfsTer6
XM_011531686.1:c.98_101del XP_011529988.1:p.Thr33SerfsTer6
NM_172250.3:c.593_596del VV MANE Preferred NP_758454.1:p.Thr198SerfsTer6
XM_011531684.3:c.593_596del XP_011529986.1:p.Thr198SerfsTer6
XM_011531685.2:c.593_596del XP_011529987.1:p.Thr198SerfsTer6
XM_011531686.2:c.98_101del XP_011529988.1:p.Thr33SerfsTer6
ENST00000281317.9:c.593_596del ENSP00000281317.5:p.Thr198SerfsTer6
ENST00000506919.1:n.1081_1084del
ENST00000511969.4:c.593_596del ENSP00000427422.1:p.Thr198SerfsTer6
ENST00000541599.4:c.593_596del ENSP00000442284.2:p.Thr198SerfsTer6