Canonical Allele Identifier: CA2792428362

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747061_64747062insACACCCAACA , CM000673.2:g.64747061_64747062insACACCCAACA	GRCh38
NC_000011.9:g.64514533_64514534insACACCCAACA , CM000673.1:g.64514533_64514534insACACCCAACA	GRCh37
NC_000011.8:g.64271109_64271110insACACCCAACA	NCBI36
NG_007574.1:g.3395_3396insTGTTGGGTGT , LRG_100:g.3395_3396insTGTTGGGTGT
NG_013018.1:g.18654_18655insTGTTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-75_2313-74insTGTTGGGTGT MANE Select	ENSP00000164139.3:n.2313-75_2313-74insTGTTGGGTGT
ENST00000164139.3:c.2313-75_2313-74insTGTTGGGTGT	ENSP00000164139.3:n.2313-75_2313-74insTGTTGGGTGT
ENST00000377432.7:c.2049-75_2049-74insTGTTGGGTGT	ENSP00000366650.3:n.2049-75_2049-74insTGTTGGGTGT
ENST00000483742.1:n.1666-75_1666-74insTGTTGGGTGT
NM_001164716.1:c.2049-75_2049-74insTGTTGGGTGT	NP_001158188.1:n.2049-75_2049-74insTGTTGGGTGT
NM_005609.2:c.2313-75_2313-74insTGTTGGGTGT	NP_005600.1:n.2313-75_2313-74insTGTTGGGTGT
NM_005609.3:c.2313-75_2313-74insTGTTGGGTGT	NP_005600.1:n.2313-75_2313-74insTGTTGGGTGT
NM_005609.4:c.2313-75_2313-74insTGTTGGGTGT MANE Select	NP_005600.1:n.2313-75_2313-74insTGTTGGGTGT