Canonical Allele Identifier: CA2631641048

Gene: PMM2

Linked Data

• gnomAD v4: 16-8804691-GTCATTGTTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804695_8804704del , CM000678.2:g.8804695_8804704del	GRCh38
NC_000016.9:g.8898552_8898561del , CM000678.1:g.8898552_8898561del	GRCh37
NC_000016.8:g.8806053_8806062del	NCBI36
NG_009209.1:g.11883_11892del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.179-72_179-63del	ENSP00000507849.1:n.179-72_179-63del
ENST00000682393.1:c.178+2785_178+2794del	ENSP00000506774.1:n.178+2785_178+2794del
ENST00000683094.1:c.179-1621_179-1612del	ENSP00000508230.1:n.179-1621_179-1612del
ENST00000683274.1:c.179-72_179-63del	ENSP00000507262.1:n.179-72_179-63del
ENST00000683435.1:c.*175-72_*175-63del	ENSP00000508092.1:n.*175-72_*175-63del
ENST00000268261.9:c.179-72_179-63del MANE Select	ENSP00000268261.4:n.179-72_179-63del
ENST00000268261.8:c.179-72_179-63del	ENSP00000268261.4:n.179-72_179-63del
ENST00000562318.5:c.179-1621_179-1612del	ENSP00000454395.1:n.179-1621_179-1612del
ENST00000562448.1:n.220-1621_220-1612del
ENST00000564030.5:n.241-72_241-63del
ENST00000564069.1:c.150-72_150-63del
ENST00000565221.5:c.178+2785_178+2794del	ENSP00000457932.1:n.178+2785_178+2794del
ENST00000565896.5:c.*145+2306_*145+2315del	ENSP00000456024.1:n.*145+2306_*145+2315de...
ENST00000566540.5:c.179-1621_179-1612del	ENSP00000454284.1:n.179-1621_179-1612del
ENST00000566604.5:c.179-72_179-63del	ENSP00000456774.1:n.179-72_179-63del
ENST00000566983.5:c.98-72_98-63del	ENSP00000457956.1:n.98-72_98-63del
ENST00000568602.5:c.*32-72_*32-63del	ENSP00000455066.1:n.*32-72_*32-63del
ENST00000569958.5:c.178+2785_178+2794del	ENSP00000456302.1:n.178+2785_178+2794del
ENST00000570076.5:c.178+2785_178+2794del	ENSP00000456961.1:n.178+2785_178+2794del
ENST00000570134.5:c.179-1621_179-1612del	ENSP00000456275.1:n.179-1621_179-1612del
NM_000303.2:c.179-72_179-63del	NP_000294.1:n.179-72_179-63del
XM_005255372.3:c.179-72_179-63del	XP_005255429.1:n.179-72_179-63del
XM_005255373.3:c.7-1621_7-1612del	XP_005255430.1:n.7-1621_7-1612del
XM_005255374.3:c.7-1621_7-1612del	XP_005255431.1:n.7-1621_7-1612del
XM_011522538.1:c.179-72_179-63del	XP_011520840.1:n.179-72_179-63del
XM_011522539.1:c.-29+2785_-29+2794del	XP_011520841.1:n.-29+2785_-29+2794del
XM_005255374.4:c.7-1621_7-1612del	XP_005255431.1:n.7-1621_7-1612del
NM_000303.3:c.179-72_179-63del MANE Select	NP_000294.1:n.179-72_179-63del