Canonical Allele Identifier: CA2323504355
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658384_12658385delinsCG , CM000681.2:g.12658384_12658385delinsCG GRCh38
NC_000019.9:g.12769198_12769199delinsCG , CM000681.1:g.12769198_12769199delinsCG GRCh37
NC_000019.8:g.12630198_12630199delinsCG NCBI36
NG_008318.1:g.13393_13394delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1110-41_1110-40delinsCG MANE Select ENSP00000395473.2:n.1110-41_1110-40delins...
ENST00000221363.8:c.1107-41_1107-40delinsCG ENSP00000221363.4:n.1107-41_1107-40delins...
ENST00000456935.6:c.1110-41_1110-40delinsCG ENSP00000395473.2:n.1110-41_1110-40delins...
ENST00000465830.1:n.233_234delinsCG
ENST00000466794.5:n.1009-41_1009-40delinsCG
ENST00000495617.1:n.280+346_280+347delinsCG
NM_000528.3:c.1110-41_1110-40delinsCG NP_000519.2:n.1110-41_1110-40delinsCG
NM_001173498.1:c.1107-41_1107-40delinsCG NP_001166969.1:n.1107-41_1107-40delinsCG
XM_005259913.1:c.1113-41_1113-40delinsCG XP_005259970.1:n.1113-41_1113-40delinsCG
XM_011528017.1:c.9-41_9-40delinsCG XP_011526319.1:n.9-41_9-40delinsCG
XM_005259913.2:c.1113-41_1113-40delinsCG XP_005259970.1:n.1113-41_1113-40delinsCG
XM_024451518.1:c.9-41_9-40delinsCG XP_024307286.1:n.9-41_9-40delinsCG
NM_000528.4:c.1110-41_1110-40delinsCG MANE Select NP_000519.2:n.1110-41_1110-40delinsCG
NM_001173498.2:c.1107-41_1107-40delinsCG NP_001166969.1:n.1107-41_1107-40delinsCG