Canonical Allele Identifier: CA2582720400

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657250-TCCTTCCCCCCTCCAAAGCCCCGCCCCGTTCCTGTATCTTTCCCCGCCTCCTACAAGCCCCGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657253_12657316del , CM000681.2:g.12657253_12657316del	GRCh38
NC_000019.9:g.12768067_12768130del , CM000681.1:g.12768067_12768130del	GRCh37
NC_000019.8:g.12629067_12629130del	NCBI36
NG_008318.1:g.14464_14527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+132_1420-195del MANE Select	ENSP00000395473.2:n.1419+132_1420-195del
ENST00000221363.8:c.1416+132_1417-195del	ENSP00000221363.4:n.1416+132_1417-195del
ENST00000456935.6:c.1419+132_1420-195del	ENSP00000395473.2:n.1419+132_1420-195del
ENST00000466794.5:n.1318+132_1319-195del
ENST00000495617.1:n.595+132_596-195del
ENST00000593686.1:c.29+132_30-195del
ENST00000595880.5:n.16+50_16+113del
NM_000528.3:c.1419+132_1420-195del	NP_000519.2:n.1419+132_1420-195del
NM_001173498.1:c.1416+132_1417-195del	NP_001166969.1:n.1416+132_1417-195del
XM_005259913.1:c.1422+132_1423-195del	XP_005259970.1:n.1422+132_1423-195del
XM_011528017.1:c.318+132_319-195del	XP_011526319.1:n.318+132_319-195del
XM_005259913.2:c.1422+132_1423-195del	XP_005259970.1:n.1422+132_1423-195del
XM_024451518.1:c.318+132_319-195del	XP_024307286.1:n.318+132_319-195del
NM_000528.4:c.1419+132_1420-195del MANE Select	NP_000519.2:n.1419+132_1420-195del
NM_001173498.2:c.1416+132_1417-195del	NP_001166969.1:n.1416+132_1417-195del