Canonical Allele Identifier: CA277488291

Gene: PMM2

Linked Data

• dbSNP Id: rs975055850
• gnomAD v3: 16-8804609-CTTT-C
• gnomAD v4: 16-8804609-CTTT-C
• MyVariant Identifiers: chr16:g.8898467_8898469del (hg19) ; chr16:g.8804610_8804612del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804613_8804615del , CM000678.2:g.8804613_8804615del	GRCh38
NC_000016.9:g.8898470_8898472del , CM000678.1:g.8898470_8898472del	GRCh37
NC_000016.8:g.8805971_8805973del	NCBI36
NG_009209.1:g.11801_11803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.179-154_179-152del	ENSP00000507849.1:n.179-154_179-152del
ENST00000682393.1:c.178+2703_178+2705del	ENSP00000506774.1:n.178+2703_178+2705del
ENST00000683094.1:c.179-1703_179-1701del	ENSP00000508230.1:n.179-1703_179-1701del
ENST00000683274.1:c.179-154_179-152del	ENSP00000507262.1:n.179-154_179-152del
ENST00000683435.1:c.*175-154_*175-152del	ENSP00000508092.1:n.*175-154_*175-152del
ENST00000268261.9:c.179-154_179-152del MANE Select	ENSP00000268261.4:n.179-154_179-152del
ENST00000268261.8:c.179-154_179-152del	ENSP00000268261.4:n.179-154_179-152del
ENST00000562318.5:c.179-1703_179-1701del	ENSP00000454395.1:n.179-1703_179-1701del
ENST00000562448.1:n.220-1703_220-1701del
ENST00000564030.5:n.241-154_241-152del
ENST00000564069.1:c.150-154_150-152del
ENST00000565221.5:c.178+2703_178+2705del	ENSP00000457932.1:n.178+2703_178+2705del
ENST00000565896.5:c.*145+2224_*145+2226del	ENSP00000456024.1:n.*145+2224_*145+2226del
ENST00000566540.5:c.179-1703_179-1701del	ENSP00000454284.1:n.179-1703_179-1701del
ENST00000566604.5:c.179-154_179-152del	ENSP00000456774.1:n.179-154_179-152del
ENST00000566983.5:c.98-154_98-152del	ENSP00000457956.1:n.98-154_98-152del
ENST00000568602.5:c.*32-154_*32-152del	ENSP00000455066.1:n.*32-154_*32-152del
ENST00000569958.5:c.178+2703_178+2705del	ENSP00000456302.1:n.178+2703_178+2705del
ENST00000570076.5:c.178+2703_178+2705del	ENSP00000456961.1:n.178+2703_178+2705del
ENST00000570134.5:c.179-1703_179-1701del	ENSP00000456275.1:n.179-1703_179-1701del
NM_000303.2:c.179-154_179-152del	NP_000294.1:n.179-154_179-152del
XM_005255372.3:c.179-154_179-152del	XP_005255429.1:n.179-154_179-152del
XM_005255373.3:c.7-1703_7-1701del	XP_005255430.1:n.7-1703_7-1701del
XM_005255374.3:c.7-1703_7-1701del	XP_005255431.1:n.7-1703_7-1701del
XM_011522538.1:c.179-154_179-152del	XP_011520840.1:n.179-154_179-152del
XM_011522539.1:c.-29+2703_-29+2705del	XP_011520841.1:n.-29+2703_-29+2705del
XM_005255374.4:c.7-1703_7-1701del	XP_005255431.1:n.7-1703_7-1701del
NM_000303.3:c.179-154_179-152del MANE Select	NP_000294.1:n.179-154_179-152del