Canonical Allele Identifier: CA2624827375

Gene: PYGL

Linked Data

• gnomAD v4: 14-50911588-TACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911589_50911591del , CM000676.2:g.50911589_50911591del	GRCh38
NC_000014.8:g.51378307_51378309del , CM000676.1:g.51378307_51378309del	GRCh37
NC_000014.7:g.50448057_50448059del	NCBI36
NG_012796.1:g.37940_37942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+139_1969+141del MANE Select	ENSP00000216392.7:n.1969+139_1969+141del
ENST00000216392.7:c.1969+139_1969+141del	ENSP00000216392.7:n.1969+139_1969+141del
ENST00000532107.2:n.142+139_142+141del
ENST00000532462.5:c.1969+139_1969+141del	ENSP00000431657.1:n.1969+139_1969+141del
ENST00000544180.6:c.1867+139_1867+141del	ENSP00000443787.1:n.1867+139_1867+141del
NM_001163940.1:c.1867+139_1867+141del	NP_001157412.1:n.1867+139_1867+141del
NM_002863.4:c.1969+139_1969+141del	NP_002854.3:n.1969+139_1969+141del
NM_002863.5:c.1969+139_1969+141del MANE Select	NP_002854.3:n.1969+139_1969+141del
NM_001163940.2:c.1867+139_1867+141del	NP_001157412.1:n.1867+139_1867+141del