Canonical Allele Identifier: CA2668124954

Gene: GYG1

Linked Data

• gnomAD v4: 3-148994282-G-GACAGTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994282_148994283insACAGTCTTT , CM000665.2:g.148994282_148994283insACAGTCTTT	GRCh38
NC_000003.11:g.148712069_148712070insACAGTCTTT , CM000665.1:g.148712069_148712070insACAGTCTTT	GRCh37
NC_000003.10:g.150194759_150194760insACAGTCTTT	NCBI36
NG_027677.1:g.7875_7876insACAGTCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.143+5_143+6insACAGTCTTT MANE Select	ENSP00000340736.4:n.143+5_143+6insACAGTCT...
ENST00000296048.10:c.143+5_143+6insACAGTCTTT	ENSP00000296048.6:n.143+5_143+6insACAGTCT...
ENST00000345003.8:c.143+5_143+6insACAGTCTTT	ENSP00000340736.4:n.143+5_143+6insACAGTCT...
ENST00000461191.1:c.143+5_143+6insACAGTCTTT	ENSP00000420247.1:n.143+5_143+6insACAGTCT...
ENST00000465547.1:n.49+22_49+23insACAGTCTTT
ENST00000473005.1:c.5+5_5+6insACAGTCTTT	ENSP00000417671.1:n.5+5_5+6insACAGTCTTT
ENST00000478067.1:n.244+5_244+6insACAGTCTTT
ENST00000483267.5:c.143+5_143+6insACAGTCTTT	ENSP00000419499.1:n.143+5_143+6insACAGTCT...
ENST00000484197.5:c.143+5_143+6insACAGTCTTT	ENSP00000420683.1:n.143+5_143+6insACAGTCT...
ENST00000492285.6:c.5+5_5+6insACAGTCTTT	ENSP00000418297.2:n.5+5_5+6insACAGTCTTT
ENST00000627418.2:c.143+5_143+6insACAGTCTTT	ENSP00000486061.1:n.143+5_143+6insACAGTCT...
NM_001184720.1:c.143+5_143+6insACAGTCTTT	NP_001171649.1:n.143+5_143+6insACAGTCTTT
NM_001184721.1:c.143+5_143+6insACAGTCTTT	NP_001171650.1:n.143+5_143+6insACAGTCTTT
NM_004130.3:c.143+5_143+6insACAGTCTTT	NP_004121.2:n.143+5_143+6insACAGTCTTT
XM_017006275.1:c.-34-2020_-34-2019insACAGTCTTT	XP_016861764.1:n.-34-2020_-34-2019insACAG...
NM_004130.4:c.143+5_143+6insACAGTCTTT MANE Select	NP_004121.2:n.143+5_143+6insACAGTCTTT
NM_001184720.2:c.143+5_143+6insACAGTCTTT	NP_001171649.1:n.143+5_143+6insACAGTCTTT
NM_001184721.2:c.143+5_143+6insACAGTCTTT	NP_001171650.1:n.143+5_143+6insACAGTCTTT