Canonical Allele Identifier: CA2614197345

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753515-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753518_64753519dup , CM000673.2:g.64753518_64753519dup	GRCh38
NC_000011.9:g.64520990_64520991dup , CM000673.1:g.64520990_64520991dup	GRCh37
NC_000011.8:g.64277566_64277567dup	NCBI36
NG_013018.1:g.12199_12200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+2_1403+3dup
ENST00000164139.3:c.1403+2_1403+3dup
ENST00000377432.7:c.1139+2_1139+3dup
NM_001164716.1:c.1139+2_1139+3dup
NM_005609.2:c.1403+2_1403+3dup
NM_005609.3:c.1403+2_1403+3dup
NM_005609.4:c.1403+2_1403+3dup