Canonical Allele Identifier: CA2614199252

Gene: PYGM

Linked Data

• gnomAD v4: 11-64746967-T-TAATCTGCGAAGACTTTAAACCTGGAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746970_64746999dup , CM000673.2:g.64746970_64746999dup	GRCh38
NC_000011.9:g.64514442_64514471dup , CM000673.1:g.64514442_64514471dup	GRCh37
NC_000011.8:g.64271018_64271047dup	NCBI36
NG_007574.1:g.3460_3489dup , LRG_100:g.3460_3489dup
NG_013018.1:g.18719_18748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-10_2332dup
ENST00000164139.3:c.2313-10_2332dup
ENST00000377432.7:c.2049-10_2068dup
ENST00000483742.1:n.1666-10_1685dup
NM_001164716.1:c.2049-10_2068dup
NM_005609.2:c.2313-10_2332dup
NM_005609.3:c.2313-10_2332dup
NM_005609.4:c.2313-10_2332dup