Canonical Allele Identifier: CA552862487

Gene: MEPE

Linked Data

• dbSNP Id: rs1426996875
• gnomAD v2: 4-88755556-CTGA-C
• gnomAD v3: 4-87834404-CTGA-C
• gnomAD v4: 4-87834404-CTGA-C
• MyVariant Identifiers: chr4:g.88755557_88755559del (hg19) ; chr4:g.87834405_87834407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834409_87834411del , CM000666.2:g.87834409_87834411del	GRCh38
NC_000004.11:g.88755561_88755563del , CM000666.1:g.88755561_88755563del	GRCh37
NC_000004.10:g.88974585_88974587del	NCBI36
NG_034073.1:g.18012_18014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.-12-294_-12-292del MANE Select	ENSP00000354341.3:n.-12-294_-12-292del
ENST00000424957.8:c.-12-294_-12-292del	ENSP00000416984.3:n.-12-294_-12-292del
ENST00000560249.6:c.-12-294_-12-292del	ENSP00000453994.2:n.-12-294_-12-292del
ENST00000361056.3:c.-12-294_-12-292del	ENSP00000354341.3:n.-12-294_-12-292del
ENST00000395102.8:c.-12-294_-12-292del	ENSP00000378534.4:n.-12-294_-12-292del
ENST00000424957.7:c.-12-294_-12-292del	ENSP00000416984.3:n.-12-294_-12-292del
ENST00000497649.6:c.-313-294_-313-292del	ENSP00000422747.1:n.-313-294_-313-292del
ENST00000508016.5:n.47-294_47-292del
ENST00000511670.5:c.-12-294_-12-292del	ENSP00000421430.1:n.-12-294_-12-292del
ENST00000515821.5:n.47-294_47-292del
ENST00000540395.1:c.-479-294_-479-292del	ENSP00000443491.1:n.-479-294_-479-292del
ENST00000560249.5:c.-550-294_-550-292del	ENSP00000453994.1:n.-550-294_-550-292del
NM_001184694.2:c.-12-294_-12-292del	NP_001171623.1:n.-12-294_-12-292del
NM_001184695.1:c.-457-294_-457-292del	NP_001171624.1:n.-457-294_-457-292del
NM_001184696.1:c.-479-294_-479-292del	NP_001171625.1:n.-479-294_-479-292del
NM_001184697.1:c.-550-294_-550-292del	NP_001171626.1:n.-550-294_-550-292del
NM_020203.3:c.-12-294_-12-292del	NP_064588.1:n.-12-294_-12-292del
XM_006714278.1:c.-12-294_-12-292del	XP_006714341.1:n.-12-294_-12-292del
XM_006714278.2:c.-12-294_-12-292del	XP_006714341.1:n.-12-294_-12-292del
NM_001184695.2:c.-457-294_-457-292del	NP_001171624.1:n.-457-294_-457-292del
NM_020203.4:c.-12-294_-12-292del	NP_064588.1:n.-12-294_-12-292del
NM_001184694.3:c.-12-294_-12-292del	NP_001171623.1:n.-12-294_-12-292del
NM_001184695.4:c.-457-294_-457-292del	NP_001171624.1:n.-457-294_-457-292del
NM_001184696.2:c.-479-294_-479-292del	NP_001171625.1:n.-479-294_-479-292del
NM_001184697.2:c.-550-294_-550-292del	NP_001171626.1:n.-550-294_-550-292del
NM_001291183.2:c.-12-294_-12-292del	NP_001278112.1:n.-12-294_-12-292del
NM_020203.6:c.-12-294_-12-292del MANE Select	NP_064588.1:n.-12-294_-12-292del