Canonical Allele Identifier: CA2624827385

Gene: PYGL

Linked Data

• gnomAD v4: 14-50911592-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911593_50911594del , CM000676.2:g.50911593_50911594del	GRCh38
NC_000014.8:g.51378311_51378312del , CM000676.1:g.51378311_51378312del	GRCh37
NC_000014.7:g.50448061_50448062del	NCBI36
NG_012796.1:g.37937_37938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+136_1969+137del MANE Select	ENSP00000216392.7:n.1969+136_1969+137del
ENST00000216392.7:c.1969+136_1969+137del	ENSP00000216392.7:n.1969+136_1969+137del
ENST00000532107.2:n.142+136_142+137del
ENST00000532462.5:c.1969+136_1969+137del	ENSP00000431657.1:n.1969+136_1969+137del
ENST00000544180.6:c.1867+136_1867+137del	ENSP00000443787.1:n.1867+136_1867+137del
NM_001163940.1:c.1867+136_1867+137del	NP_001157412.1:n.1867+136_1867+137del
NM_002863.4:c.1969+136_1969+137del	NP_002854.3:n.1969+136_1969+137del
NM_002863.5:c.1969+136_1969+137del MANE Select	NP_002854.3:n.1969+136_1969+137del
NM_001163940.2:c.1867+136_1867+137del	NP_001157412.1:n.1867+136_1867+137del