Canonical Allele Identifier: CA3054207199

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573421_109573425delinsACCTT , CM000674.2:g.109573421_109573425delinsACCTT	GRCh38
NC_000012.11:g.110011226_110011230delinsACCTT , CM000674.1:g.110011226_110011230delinsACCTT	GRCh37
NC_000012.10:g.108495609_108495613delinsACCTT	NCBI36
NG_007096.1:g.5073_5077delinsAAGGT
NG_007702.1:g.4727_4731delinsACCTT , LRG_156:g.4727_4731delinsACCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-165_-161delinsACCTT (MVK)	ENSP00000438153.2:n.-165_-161delinsACCTT
ENST00000545712.7:c.56_60delinsAAGGT (MMAB) MANE Select	ENSP00000445920.1:p.Arg19Gln
ENST00000420167.6:c.56_60delinsAAGGT (MMAB)	ENSP00000416136.2:p.Arg19Gln
ENST00000503497.7:c.56_60delinsAAGGT (MMAB)	ENSP00000474881.1:p.Arg19Gln
ENST00000535044.1:n.81_85delinsACCTT (MVK)
ENST00000536760.1:n.59_63delinsAAGGT (MMAB)
ENST00000537236.2:c.56_60delinsAAGGT (MMAB)	ENSP00000483818.1:p.Arg19Gln
ENST00000537496.5:c.56_60delinsAAGGT (MMAB)	ENSP00000444793.1:p.Arg19Gln
ENST00000539335.5:c.-156_-152delinsACCTT (MVK)	ENSP00000440379.1:n.-156_-152delinsACCTT
ENST00000540016.5:c.56_60delinsAAGGT (MMAB)	ENSP00000474582.1:p.Arg19Gln
ENST00000541763.6:c.56_60delinsAAGGT (MMAB)	ENSP00000474981.1:p.Arg19Gln
ENST00000542390.5:n.83_87delinsAAGGT (MMAB)
ENST00000544051.5:c.56_60delinsAAGGT (MMAB)	ENSP00000438079.1:p.Arg19Gln
ENST00000545712.6:c.56_60delinsAAGGT (MMAB)	ENSP00000445920.1:p.Arg19Gln
ENST00000546277.5:c.-165_-161delinsACCTT (MVK)	ENSP00000438153.1:n.-165_-161delinsACCTT
NM_052845.3:c.56_60delinsAAGGT (MMAB)	NP_443077.1:p.Arg19Gln
NR_038118.1:n.129_133delinsAAGGT (MMAB)
XM_011538372.1:c.-165_-161delinsACCTT (MVK)	XP_011536674.1:n.-165_-161delinsACCTT
XM_024448961.1:c.56_60delinsAAGGT (MMAB)	XP_024304729.1:p.Arg19Gln
NM_052845.4:c.56_60delinsAAGGT (MMAB) MANE Select	NP_443077.1:p.Arg19Gln
NR_038118.2:n.80_84delinsAAGGT (MMAB)