Canonical Allele Identifier: CA799599030

Gene: MEPE

Linked Data

• dbSNP Id: rs1391817688
• gnomAD v3: 4-87834624-CTA-C
• gnomAD v4: 4-87834624-CTA-C
• MyVariant Identifiers: chr4:g.88755777_88755778del (hg19) ; chr4:g.87834625_87834626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834626_87834627del , CM000666.2:g.87834626_87834627del	GRCh38
NC_000004.11:g.88755778_88755779del , CM000666.1:g.88755778_88755779del	GRCh37
NC_000004.10:g.88974802_88974803del	NCBI36
NG_034073.1:g.18229_18230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.-12-77_-12-76del MANE Select	ENSP00000354341.3:n.-12-77_-12-76del
ENST00000424957.8:c.-12-77_-12-76del	ENSP00000416984.3:n.-12-77_-12-76del
ENST00000560249.6:c.-12-77_-12-76del	ENSP00000453994.2:n.-12-77_-12-76del
ENST00000361056.3:c.-12-77_-12-76del	ENSP00000354341.3:n.-12-77_-12-76del
ENST00000395102.8:c.-12-77_-12-76del	ENSP00000378534.4:n.-12-77_-12-76del
ENST00000424957.7:c.-12-77_-12-76del	ENSP00000416984.3:n.-12-77_-12-76del
ENST00000497649.6:c.-313-77_-313-76del	ENSP00000422747.1:n.-313-77_-313-76del
ENST00000508016.5:n.47-77_47-76del
ENST00000511670.5:c.-12-77_-12-76del	ENSP00000421430.1:n.-12-77_-12-76del
ENST00000515821.5:n.47-77_47-76del
ENST00000540395.1:c.-479-77_-479-76del	ENSP00000443491.1:n.-479-77_-479-76del
ENST00000560249.5:c.-550-77_-550-76del	ENSP00000453994.1:n.-550-77_-550-76del
NM_001184694.2:c.-12-77_-12-76del	NP_001171623.1:n.-12-77_-12-76del
NM_001184695.1:c.-457-77_-457-76del	NP_001171624.1:n.-457-77_-457-76del
NM_001184696.1:c.-479-77_-479-76del	NP_001171625.1:n.-479-77_-479-76del
NM_001184697.1:c.-550-77_-550-76del	NP_001171626.1:n.-550-77_-550-76del
NM_020203.3:c.-12-77_-12-76del	NP_064588.1:n.-12-77_-12-76del
XM_006714278.1:c.-12-77_-12-76del	XP_006714341.1:n.-12-77_-12-76del
XM_006714278.2:c.-12-77_-12-76del	XP_006714341.1:n.-12-77_-12-76del
NM_001184695.2:c.-457-77_-457-76del	NP_001171624.1:n.-457-77_-457-76del
NM_020203.4:c.-12-77_-12-76del	NP_064588.1:n.-12-77_-12-76del
NM_001184694.3:c.-12-77_-12-76del	NP_001171623.1:n.-12-77_-12-76del
NM_001184695.4:c.-457-77_-457-76del	NP_001171624.1:n.-457-77_-457-76del
NM_001184696.2:c.-479-77_-479-76del	NP_001171625.1:n.-479-77_-479-76del
NM_001184697.2:c.-550-77_-550-76del	NP_001171626.1:n.-550-77_-550-76del
NM_001291183.2:c.-12-77_-12-76del	NP_001278112.1:n.-12-77_-12-76del
NM_020203.6:c.-12-77_-12-76del MANE Select	NP_064588.1:n.-12-77_-12-76del