Canonical Allele Identifier: CA2620808879

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560931-AGGCCCCTCTCCCTCTCCCCATCTCCGTCCTCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560937_109561015del , CM000674.2:g.109560937_109561015del	GRCh38
NC_000012.11:g.109998742_109998820del , CM000674.1:g.109998742_109998820del	GRCh37
NC_000012.10:g.108483125_108483203del	NCBI36
NG_007096.1:g.17488_17566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+30_584+108del MANE Select	ENSP00000445920.1:n.584+30_584+108del
ENST00000537496.5:c.*149+30_*149+108del	ENSP00000444793.1:n.*149+30_*149+108del
ENST00000540016.5:c.428+30_428+108del	ENSP00000474582.1:n.428+30_428+108del
ENST00000541763.6:c.809+30_809+108del	ENSP00000474981.1:n.809+30_809+108del
ENST00000544051.5:c.*465+30_*465+108del	ENSP00000438079.1:n.*465+30_*465+108del
ENST00000545712.6:c.584+30_584+108del	ENSP00000445920.1:n.584+30_584+108del
NM_052845.3:c.584+30_584+108del	NP_443077.1:n.584+30_584+108del
NR_038118.1:n.744+30_744+108del
XM_011538266.1:c.429+30_429+108del	XP_011536568.1:n.429+30_429+108del
XM_011538267.1:c.429+30_429+108del	XP_011536569.1:n.429+30_429+108del
XM_011538268.1:c.311+30_311+108del	XP_011536570.1:n.311+30_311+108del
XM_011538269.1:c.308+30_308+108del	XP_011536571.1:n.308+30_308+108del
XM_011538267.3:c.429+30_429+108del	XP_011536569.1:n.429+30_429+108del
XM_011538268.2:c.311+30_311+108del	XP_011536570.1:n.311+30_311+108del
XM_011538269.2:c.308+30_308+108del	XP_011536571.1:n.308+30_308+108del
XM_024448961.1:c.584+30_584+108del	XP_024304729.1:n.584+30_584+108del
NM_052845.4:c.584+30_584+108del MANE Select	NP_443077.1:n.584+30_584+108del
NR_038118.2:n.695+30_695+108del