Canonical Allele Identifier: CA2582720211

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656932-CTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656938_12656942del , CM000681.2:g.12656938_12656942del	GRCh38
NC_000019.9:g.12767752_12767756del , CM000681.1:g.12767752_12767756del	GRCh37
NC_000019.8:g.12628752_12628756del	NCBI36
NG_008318.1:g.14841_14845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1527+12_1527+16del MANE Select	ENSP00000395473.2:n.1527+12_1527+16del
ENST00000221363.8:c.1524+12_1524+16del	ENSP00000221363.4:n.1524+12_1524+16del
ENST00000433513.5:n.133+12_133+16del
ENST00000456935.6:c.1527+12_1527+16del	ENSP00000395473.2:n.1527+12_1527+16del
ENST00000466794.5:n.1426+12_1426+16del
ENST00000495617.1:n.703+12_703+16del
ENST00000593686.1:c.137+12_137+16del
ENST00000595880.5:n.124+12_124+16del
NM_000528.3:c.1527+12_1527+16del	NP_000519.2:n.1527+12_1527+16del
NM_001173498.1:c.1524+12_1524+16del	NP_001166969.1:n.1524+12_1524+16del
XM_005259913.1:c.1530+12_1530+16del	XP_005259970.1:n.1530+12_1530+16del
XM_011528017.1:c.426+12_426+16del	XP_011526319.1:n.426+12_426+16del
XM_005259913.2:c.1530+12_1530+16del	XP_005259970.1:n.1530+12_1530+16del
XM_024451518.1:c.426+12_426+16del	XP_024307286.1:n.426+12_426+16del
NM_000528.4:c.1527+12_1527+16del MANE Select	NP_000519.2:n.1527+12_1527+16del
NM_001173498.2:c.1524+12_1524+16del	NP_001166969.1:n.1524+12_1524+16del