Canonical Allele Identifier: CA2582720363

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657223-TCCGCCTCCTCTTGCCCACGCCCCGCCTCCTTCCCCCCTCCAAAGCCCCGCCCCGTTCCTGTATCTTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657233_12657301del , CM000681.2:g.12657233_12657301del	GRCh38
NC_000019.9:g.12768047_12768115del , CM000681.1:g.12768047_12768115del	GRCh37
NC_000019.8:g.12629047_12629115del	NCBI36
NG_008318.1:g.14486_14554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+154_1420-168del MANE Select	ENSP00000395473.2:n.1419+154_1420-168del
ENST00000221363.8:c.1416+154_1417-168del	ENSP00000221363.4:n.1416+154_1417-168del
ENST00000456935.6:c.1419+154_1420-168del	ENSP00000395473.2:n.1419+154_1420-168del
ENST00000466794.5:n.1318+154_1319-168del
ENST00000495617.1:n.595+154_596-168del
ENST00000593686.1:c.29+154_30-168del
ENST00000595880.5:n.16+72_16+140del
NM_000528.3:c.1419+154_1420-168del	NP_000519.2:n.1419+154_1420-168del
NM_001173498.1:c.1416+154_1417-168del	NP_001166969.1:n.1416+154_1417-168del
XM_005259913.1:c.1422+154_1423-168del	XP_005259970.1:n.1422+154_1423-168del
XM_011528017.1:c.318+154_319-168del	XP_011526319.1:n.318+154_319-168del
XM_005259913.2:c.1422+154_1423-168del	XP_005259970.1:n.1422+154_1423-168del
XM_024451518.1:c.318+154_319-168del	XP_024307286.1:n.318+154_319-168del
NM_000528.4:c.1419+154_1420-168del MANE Select	NP_000519.2:n.1419+154_1420-168del
NM_001173498.2:c.1416+154_1417-168del	NP_001166969.1:n.1416+154_1417-168del