Canonical Allele Identifier: CA2582721041

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658564-CCCACACTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658571_12658578del , CM000681.2:g.12658571_12658578del	GRCh38
NC_000019.9:g.12769385_12769392del , CM000681.1:g.12769385_12769392del	GRCh37
NC_000019.8:g.12630385_12630392del	NCBI36
NG_008318.1:g.13206_13213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-62_1027-55del MANE Select	ENSP00000395473.2:n.1027-62_1027-55del
ENST00000221363.8:c.1027-65_1027-58del	ENSP00000221363.4:n.1027-65_1027-58del
ENST00000456935.6:c.1027-62_1027-55del	ENSP00000395473.2:n.1027-62_1027-55del
ENST00000465830.1:n.46_53del
ENST00000466794.5:n.1009-228_1009-221del
ENST00000495617.1:n.280+159_280+166del
NM_000528.3:c.1027-62_1027-55del	NP_000519.2:n.1027-62_1027-55del
NM_001173498.1:c.1027-65_1027-58del	NP_001166969.1:n.1027-65_1027-58del
XM_005259913.1:c.1027-59_1027-52del	XP_005259970.1:n.1027-59_1027-52del
XM_011528017.1:c.9-228_9-221del	XP_011526319.1:n.9-228_9-221del
XM_005259913.2:c.1027-59_1027-52del	XP_005259970.1:n.1027-59_1027-52del
XM_024451518.1:c.9-228_9-221del	XP_024307286.1:n.9-228_9-221del
NM_000528.4:c.1027-62_1027-55del MANE Select	NP_000519.2:n.1027-62_1027-55del
NM_001173498.2:c.1027-65_1027-58del	NP_001166969.1:n.1027-65_1027-58del