Canonical Allele Identifier: CA916083683

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 839971
• ClinVar RCV Id: RCV001041850

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647547_12648705del , CM000681.2:g.12647547_12648705del	GRCh38
NC_000019.9:g.12758361_12759519del , CM000681.1:g.12758361_12759519del	GRCh37
NC_000019.8:g.12619361_12620519del	NCBI36
NG_008318.1:g.23076_24234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2437-300_2719del
ENST00000221363.8:c.2434-300_2716del
ENST00000456935.6:c.2437-300_2719del
ENST00000466794.5:n.3027-300_3309del
NM_000528.3:c.2437-300_2719del
NM_001173498.1:c.2434-300_2716del
XM_005259913.1:c.2440-300_2722del
XM_011528017.1:c.1336-300_1618del
XM_005259913.2:c.2440-300_2722del
XM_024451518.1:c.1336-300_1618del
NM_000528.4:c.2437-300_2719del
NM_001173498.2:c.2434-300_2716del