Canonical Allele Identifier: CA2582720423

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657265-AAGCCCCGCCCCGTTCCTGTATCTTTCCCCGCCTCCTACAAGCCCCGCCCCCACGAGCCCTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657275_12657337del , CM000681.2:g.12657275_12657337del	GRCh38
NC_000019.9:g.12768089_12768151del , CM000681.1:g.12768089_12768151del	GRCh37
NC_000019.8:g.12629089_12629151del	NCBI36
NG_008318.1:g.14450_14512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+118_1419+180del MANE Select	ENSP00000395473.2:n.1419+118_1419+180del
ENST00000221363.8:c.1416+118_1416+180del	ENSP00000221363.4:n.1416+118_1416+180del
ENST00000456935.6:c.1419+118_1419+180del	ENSP00000395473.2:n.1419+118_1419+180del
ENST00000466794.5:n.1318+118_1318+180del
ENST00000495617.1:n.595+118_595+180del
ENST00000593686.1:c.29+118_29+180del
ENST00000595880.5:n.16+36_16+98del
NM_000528.3:c.1419+118_1419+180del	NP_000519.2:n.1419+118_1419+180del
NM_001173498.1:c.1416+118_1416+180del	NP_001166969.1:n.1416+118_1416+180del
XM_005259913.1:c.1422+118_1422+180del	XP_005259970.1:n.1422+118_1422+180del
XM_011528017.1:c.318+118_318+180del	XP_011526319.1:n.318+118_318+180del
XM_005259913.2:c.1422+118_1422+180del	XP_005259970.1:n.1422+118_1422+180del
XM_024451518.1:c.318+118_318+180del	XP_024307286.1:n.318+118_318+180del
NM_000528.4:c.1419+118_1419+180del MANE Select	NP_000519.2:n.1419+118_1419+180del
NM_001173498.2:c.1416+118_1416+180del	NP_001166969.1:n.1416+118_1416+180del