Canonical Allele Identifier: CA993664333

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647609-GAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGA-G
• gnomAD v4: 19-12647609-GAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647620_12647661del , CM000681.2:g.12647620_12647661del	GRCh38
NC_000019.9:g.12758434_12758475del , CM000681.1:g.12758434_12758475del	GRCh37
NC_000019.8:g.12619434_12619475del	NCBI36
NG_008318.1:g.24127_24168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-53_2665-12del MANE Select	ENSP00000395473.2:n.2665-53_2665-12del
ENST00000221363.8:c.2662-53_2662-12del	ENSP00000221363.4:n.2662-53_2662-12del
ENST00000456935.6:c.2665-53_2665-12del	ENSP00000395473.2:n.2665-53_2665-12del
ENST00000466794.5:n.3255-53_3255-12del
ENST00000493218.5:n.23_64del
ENST00000597692.1:c.224-53_224-12del
NM_000528.3:c.2665-53_2665-12del	NP_000519.2:n.2665-53_2665-12del
NM_001173498.1:c.2662-53_2662-12del	NP_001166969.1:n.2662-53_2662-12del
XM_005259913.1:c.2668-53_2668-12del	XP_005259970.1:n.2668-53_2668-12del
XM_011528017.1:c.1564-53_1564-12del	XP_011526319.1:n.1564-53_1564-12del
XM_005259913.2:c.2668-53_2668-12del	XP_005259970.1:n.2668-53_2668-12del
XM_024451518.1:c.1564-53_1564-12del	XP_024307286.1:n.1564-53_1564-12del
NM_000528.4:c.2665-53_2665-12del MANE Select	NP_000519.2:n.2665-53_2665-12del
NM_001173498.2:c.2662-53_2662-12del	NP_001166969.1:n.2662-53_2662-12del