Canonical Allele Identifier: CA993665682

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12649846-T-TCCCC
• gnomAD v4: 19-12649846-T-TCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649849_12649850insCCCC , CM000681.2:g.12649849_12649850insCCCC	GRCh38
NC_000019.9:g.12760663_12760664insCCCC , CM000681.1:g.12760663_12760664insCCCC	GRCh37
NC_000019.8:g.12621663_12621664insCCCC	NCBI36
NG_008318.1:g.21931_21932insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2267+66_2267+67insGGGG MANE Select	ENSP00000395473.2:n.2267+66_2267+67insGGGG
ENST00000221363.8:c.2264+66_2264+67insGGGG	ENSP00000221363.4:n.2264+66_2264+67insGGGG
ENST00000456935.6:c.2267+66_2267+67insGGGG	ENSP00000395473.2:n.2267+66_2267+67insGGGG
ENST00000466794.5:n.2857+66_2857+67insGGGG
NM_000528.3:c.2267+66_2267+67insGGGG	NP_000519.2:n.2267+66_2267+67insGGGG
NM_001173498.1:c.2264+66_2264+67insGGGG	NP_001166969.1:n.2264+66_2264+67insGGGG
XM_005259913.1:c.2270+66_2270+67insGGGG	XP_005259970.1:n.2270+66_2270+67insGGGG
XM_011528017.1:c.1166+66_1166+67insGGGG	XP_011526319.1:n.1166+66_1166+67insGGGG
XM_005259913.2:c.2270+66_2270+67insGGGG	XP_005259970.1:n.2270+66_2270+67insGGGG
XM_024451518.1:c.1166+66_1166+67insGGGG	XP_024307286.1:n.1166+66_1166+67insGGGG
NM_000528.4:c.2267+66_2267+67insGGGG MANE Select	NP_000519.2:n.2267+66_2267+67insGGGG
NM_001173498.2:c.2264+66_2264+67insGGGG	NP_001166969.1:n.2264+66_2264+67insGGGG