Canonical Allele Identifier: CA2614193490

Gene: PYGM

Linked Data

• gnomAD v4: 11-64751825-TAGTCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751831_64751837del , CM000673.2:g.64751831_64751837del	GRCh38
NC_000011.9:g.64519303_64519309del , CM000673.1:g.64519303_64519309del	GRCh37
NC_000011.8:g.64275879_64275885del	NCBI36
NG_013018.1:g.13884_13890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1768+92_1768+98del MANE Select	ENSP00000164139.3:n.1768+92_1768+98del
ENST00000164139.3:c.1768+92_1768+98del	ENSP00000164139.3:n.1768+92_1768+98del
ENST00000377432.7:c.1504+92_1504+98del	ENSP00000366650.3:n.1504+92_1504+98del
ENST00000462303.1:n.92+92_92+98del
NM_001164716.1:c.1504+92_1504+98del	NP_001158188.1:n.1504+92_1504+98del
NM_005609.2:c.1768+92_1768+98del	NP_005600.1:n.1768+92_1768+98del
NM_005609.3:c.1768+92_1768+98del	NP_005600.1:n.1768+92_1768+98del
NM_005609.4:c.1768+92_1768+98del MANE Select	NP_005600.1:n.1768+92_1768+98del