Canonical Allele Identifier: CA2739266583

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2838165
• ClinVar RCV Id: RCV003621101

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797948_8797949delinsTA , CM000678.2:g.8797948_8797949delinsTA	GRCh38
NC_000016.9:g.8891805_8891806delinsTA , CM000678.1:g.8891805_8891806delinsTA	GRCh37
NC_000016.8:g.8799306_8799307delinsTA	NCBI36
NG_009209.1:g.5136_5137delinsTA
NG_033146.1:g.4700_4701delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.66_66+1delinsTA
ENST00000682393.1:c.66_66+1delinsTA
ENST00000683094.1:c.66_66+1delinsTA
ENST00000683274.1:c.66_66+1delinsTA
ENST00000683435.1:c.66_66+1delinsTA
ENST00000268261.9:c.66_66+1delinsTA
ENST00000268261.8:c.66_66+1delinsTA
ENST00000562318.5:c.66_66+1delinsTA
ENST00000562448.1:n.107_107+1delinsTA
ENST00000564030.5:n.128_128+1delinsTA
ENST00000564069.1:c.37_37+1delinsTA
ENST00000565221.5:c.66_66+1delinsTA
ENST00000565896.5:c.66_66+1delinsTA
ENST00000566196.5:n.110_110+1delinsTA
ENST00000566540.5:c.66_66+1delinsTA
ENST00000566604.5:c.66_66+1delinsTA
ENST00000566983.5:c.-15-3851_-15-3850delinsTA	ENSP00000457956.1:n.-15-3851_-15-3850delinsTA
ENST00000568602.5:c.66_66+1delinsTA
ENST00000569958.5:c.66_66+1delinsTA
ENST00000570076.5:c.66_66+1delinsTA
ENST00000570134.5:c.66_66+1delinsTA
NM_000303.2:c.66_66+1delinsTA
XM_005255372.3:c.66_66+1delinsTA
XM_005255373.3:c.-107_-107+1delinsTA
XM_005255374.3:c.-107_-107+1delinsTA
XM_011522538.1:c.66_66+1delinsTA
XM_005255374.4:c.-107_-107+1delinsTA
NM_000303.3:c.66_66+1delinsTA