Canonical Allele Identifier: CA94201096

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1021031905
• gnomAD v2: 4-23854759-GTTTTCATTA-G
• gnomAD v3: 4-23853136-GTTTTCATTA-G
• gnomAD v4: 4-23853136-GTTTTCATTA-G
• MyVariant Identifiers: chr4:g.23854760_23854768del (hg19) ; chr4:g.23853137_23853145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23853138_23853146del , CM000666.2:g.23853138_23853146del	GRCh38
NC_000004.11:g.23854761_23854769del , CM000666.1:g.23854761_23854769del	GRCh37
NC_000004.10:g.23463859_23463867del	NCBI36
NG_028250.1:g.41933_41941del
NG_028250.2:g.624831_624839del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264867.7:c.235-21394_235-21386del MANE Select	ENSP00000264867.2:n.235-21394_235-21386del
ENST00000264867.6:c.235-21394_235-21386del	ENSP00000264867.2:n.235-21394_235-21386del
ENST00000506055.5:c.235-21394_235-21386del	ENSP00000423075.1:n.235-21394_235-21386del
ENST00000507342.5:n.315-21394_315-21386del
ENST00000508380.1:n.155-21394_155-21386del
ENST00000509642.5:n.328-21394_328-21386del
ENST00000509702.5:n.192-21394_192-21386del
ENST00000512169.1:n.328-21394_328-21386del
ENST00000513205.5:c.235-21394_235-21386del	ENSP00000421632.1:n.235-21394_235-21386del
ENST00000612355.1:c.223-21394_223-21386del	ENSP00000479729.1:n.223-21394_223-21386del
ENST00000613098.4:c.-147-21394_-147-21386del	ENSP00000481498.1:n.-147-21394_-147-21386del
ENST00000617484.4:c.223-21394_223-21386del	ENSP00000477921.1:n.223-21394_223-21386del
NM_013261.3:c.235-21394_235-21386del	NP_037393.1:n.235-21394_235-21386del
XM_005248130.2:c.250-21394_250-21386del	XP_005248187.1:n.250-21394_250-21386del
XM_005248131.3:c.247-21394_247-21386del	XP_005248188.1:n.247-21394_247-21386del
XM_005248132.1:c.226-21394_226-21386del	XP_005248189.1:n.226-21394_226-21386del
XM_005248134.3:c.250-21394_250-21386del	XP_005248191.1:n.250-21394_250-21386del
XM_011513764.1:c.235-21394_235-21386del	XP_011512066.1:n.235-21394_235-21386del
XM_011513765.1:c.199-21394_199-21386del	XP_011512067.1:n.199-21394_199-21386del
XM_011513766.1:c.130-21394_130-21386del	XP_011512068.1:n.130-21394_130-21386del
XM_011513767.1:c.130-21394_130-21386del	XP_011512069.1:n.130-21394_130-21386del
XM_011513768.1:c.130-21394_130-21386del	XP_011512070.1:n.130-21394_130-21386del
XM_011513769.1:c.250-21394_250-21386del	XP_011512071.1:n.250-21394_250-21386del
XM_011513770.1:c.-147-21394_-147-21386del	XP_011512072.1:n.-147-21394_-147-21386del
XM_011513771.1:c.-147-21394_-147-21386del	XP_011512073.1:n.-147-21394_-147-21386del
NM_001330751.1:c.250-21394_250-21386del	NP_001317680.1:n.250-21394_250-21386del
NM_001330752.1:c.199-21394_199-21386del	NP_001317681.1:n.199-21394_199-21386del
NM_001330753.1:c.-147-21394_-147-21386del	NP_001317682.1:n.-147-21394_-147-21386del
NM_001354825.1:c.250-21394_250-21386del	NP_001341754.1:n.250-21394_250-21386del
NM_001354826.1:c.-147-21394_-147-21386del	NP_001341755.1:n.-147-21394_-147-21386del
NM_001354827.1:c.250-21394_250-21386del	NP_001341756.1:n.250-21394_250-21386del
NM_013261.4:c.235-21394_235-21386del	NP_037393.1:n.235-21394_235-21386del
NR_148981.1:n.701-21394_701-21386del
NR_148982.1:n.804-21394_804-21386del
NR_148983.1:n.957-21394_957-21386del
NR_148984.1:n.355-21394_355-21386del
NR_148985.1:n.869-21394_869-21386del
NR_148986.1:n.701-21394_701-21386del
NR_148987.1:n.701-21394_701-21386del
XM_005248131.5:c.247-21394_247-21386del	XP_005248188.1:n.247-21394_247-21386del
XM_005248134.4:c.250-21394_250-21386del	XP_005248191.1:n.250-21394_250-21386del
XM_011513769.2:c.250-21394_250-21386del	XP_011512071.1:n.250-21394_250-21386del
XM_024453878.1:c.250-21394_250-21386del	XP_024309646.1:n.250-21394_250-21386del
NM_013261.5:c.235-21394_235-21386del MANE Select	NP_037393.1:n.235-21394_235-21386del
NM_001330751.2:c.250-21394_250-21386del	NP_001317680.1:n.250-21394_250-21386del
NM_001330752.2:c.199-21394_199-21386del	NP_001317681.1:n.199-21394_199-21386del
NM_001354825.2:c.250-21394_250-21386del	NP_001341754.1:n.250-21394_250-21386del
NM_001354826.2:c.-147-21394_-147-21386del	NP_001341755.1:n.-147-21394_-147-21386del
NM_001354827.2:c.250-21394_250-21386del	NP_001341756.1:n.250-21394_250-21386del
NR_148981.2:n.777-21394_777-21386del
NR_148982.2:n.880-21394_880-21386del
NR_148983.2:n.1033-21394_1033-21386del
NR_148984.2:n.325-21394_325-21386del
NR_148985.2:n.945-21394_945-21386del
NR_148986.2:n.777-21394_777-21386del
NR_148987.2:n.777-21394_777-21386del
NM_001330753.2:c.-147-21394_-147-21386del	NP_001317682.1:n.-147-21394_-147-21386del