Canonical Allele Identifier: CA2671363710

Gene: MEPE

Linked Data

• gnomAD v4: 4-87834839-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834840del , CM000666.2:g.87834840del	GRCh38
NC_000004.11:g.88755992del , CM000666.1:g.88755992del	GRCh37
NC_000004.10:g.88975016del	NCBI36
NG_034073.1:g.18443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.54+72del MANE Select	ENSP00000354341.3:n.54+72del
ENST00000424957.8:c.54+72del	ENSP00000416984.3:n.54+72del
ENST00000560249.6:c.54+72del	ENSP00000453994.2:n.54+72del
ENST00000361056.3:c.54+72del	ENSP00000354341.3:n.54+72del
ENST00000395102.8:c.54+72del	ENSP00000378534.4:n.54+72del
ENST00000424957.7:c.54+72del	ENSP00000416984.3:n.54+72del
ENST00000497649.6:c.-248+72del	ENSP00000422747.1:n.-248+72del
ENST00000508016.5:n.112+72del
ENST00000511670.5:c.54+72del	ENSP00000421430.1:n.54+72del
ENST00000515821.5:n.112+72del
ENST00000540395.1:c.-414+72del	ENSP00000443491.1:n.-414+72del
ENST00000560249.5:c.-485+72del	ENSP00000453994.1:n.-485+72del
NM_001184694.2:c.54+72del	NP_001171623.1:n.54+72del
NM_001184695.1:c.-392+72del	NP_001171624.1:n.-392+72del
NM_001184696.1:c.-414+72del	NP_001171625.1:n.-414+72del
NM_001184697.1:c.-485+72del	NP_001171626.1:n.-485+72del
NM_001291183.1:c.54+72del	NP_001278112.1:n.54+72del
NM_020203.3:c.54+72del	NP_064588.1:n.54+72del
XM_006714278.1:c.54+72del	XP_006714341.1:n.54+72del
XM_006714278.2:c.54+72del	XP_006714341.1:n.54+72del
NM_001184695.2:c.-392+72del	NP_001171624.1:n.-392+72del
NM_020203.4:c.54+72del	NP_064588.1:n.54+72del
NM_001184694.3:c.54+72del	NP_001171623.1:n.54+72del
NM_001184695.4:c.-392+72del	NP_001171624.1:n.-392+72del
NM_001184696.2:c.-414+72del	NP_001171625.1:n.-414+72del
NM_001184697.2:c.-485+72del	NP_001171626.1:n.-485+72del
NM_001291183.2:c.54+72del	NP_001278112.1:n.54+72del
NM_020203.6:c.54+72del MANE Select	NP_064588.1:n.54+72del