Canonical Allele Identifier: CA964080531

Gene: MAX

Linked Data

• dbSNP Id: rs200217078
• gnomAD v3: 14-65078199-A-ATTTATTTT
• gnomAD v4: 14-65078199-A-ATTTATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65078211_65078218dup , CM000676.2:g.65078211_65078218dup	GRCh38
NC_000014.8:g.65544929_65544936dup , CM000676.1:g.65544929_65544936dup	GRCh37
NC_000014.7:g.64614682_64614689dup	NCBI36
NG_029830.1:g.29303_29310dup , LRG_530:g.29303_29310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-48-171_-48-164dup	ENSP00000452206.2:n.-48-171_-48-164dup
ENST00000556979.6:c.172-171_172-164dup	ENSP00000452378.1:n.172-171_172-164dup
ENST00000358664.9:c.172-171_172-164dup MANE Select	ENSP00000351490.4:n.172-171_172-164dup
ENST00000651648.1:c.145-7838_145-7831dup	ENSP00000498863.1:n.145-7838_145-7831dup
ENST00000284165.10:c.172-171_172-164dup	ENSP00000284165.6:n.172-171_172-164dup
ENST00000341653.6:c.171+15501_171+15508dup	ENSP00000342482.2:n.171+15501_171+15508dup
ENST00000358402.8:c.145-171_145-164dup	ENSP00000351175.4:n.145-171_145-164dup
ENST00000358664.8:c.172-171_172-164dup	ENSP00000351490.4:n.172-171_172-164dup
ENST00000394606.6:c.172-171_172-164dup	ENSP00000378104.2:n.172-171_172-164dup
ENST00000553928.5:c.172-171_172-164dup	ENSP00000451907.1:n.172-171_172-164dup
ENST00000553951.1:n.249-171_249-164dup
ENST00000555419.5:c.64-171_64-164dup	ENSP00000452405.1:n.64-171_64-164dup
ENST00000555667.5:c.145-171_145-164dup	ENSP00000452286.1:n.145-171_145-164dup
ENST00000555932.5:c.37-1544_37-1537dup	ENSP00000450763.1:n.37-1544_37-1537dup
ENST00000556443.5:c.145-171_145-164dup	ENSP00000450818.1:n.145-171_145-164dup
ENST00000556892.5:c.-48-171_-48-164dup	ENSP00000452206.1:n.-48-171_-48-164dup
ENST00000556979.5:c.172-171_172-164dup	ENSP00000452378.1:n.172-171_172-164dup
ENST00000557277.5:c.-103-171_-103-164dup	ENSP00000450955.1:n.-103-171_-103-164dup
ENST00000557746.5:c.145-171_145-164dup	ENSP00000452197.1:n.145-171_145-164dup
ENST00000618858.4:c.172-171_172-164dup	ENSP00000480127.1:n.172-171_172-164dup
NM_001271069.1:c.144+15501_144+15508dup	NP_001257998.1:n.144+15501_144+15508dup
NM_002382.4:c.172-171_172-164dup	NP_002373.3:n.172-171_172-164dup
NM_145112.2:c.145-171_145-164dup	NP_660087.1:n.145-171_145-164dup
NM_145113.2:c.172-171_172-164dup	NP_660088.1:n.172-171_172-164dup
NM_197957.3:c.171+15501_171+15508dup	NP_932061.1:n.171+15501_171+15508dup
NR_073137.1:n.296-171_296-164dup
XM_011536773.1:c.172-171_172-164dup	XP_011535075.1:n.172-171_172-164dup
XR_429315.2:n.374-171_374-164dup
XR_943450.1:n.374-171_374-164dup
XR_943451.1:n.374-171_374-164dup
XR_943452.1:n.336-171_336-164dup
NM_001320415.1:c.-103-171_-103-164dup	NP_001307344.1:n.-103-171_-103-164dup
XM_011536773.3:c.172-171_172-164dup	XP_011535075.1:n.172-171_172-164dup
XM_017021312.2:c.-103-171_-103-164dup	XP_016876801.1:n.-103-171_-103-164dup
XM_017021313.1:c.-103-171_-103-164dup	XP_016876802.1:n.-103-171_-103-164dup
XR_001750326.2:n.335-171_335-164dup
XR_001750327.2:n.335-171_335-164dup
XR_002957553.1:n.365-171_365-164dup
XR_943450.3:n.374-171_374-164dup
XR_943451.3:n.374-171_374-164dup
XR_943452.3:n.335-171_335-164dup
NM_001320415.2:c.-103-171_-103-164dup	NP_001307344.1:n.-103-171_-103-164dup
NM_002382.5:c.172-171_172-164dup MANE Select	NP_002373.3:n.172-171_172-164dup
NM_145112.3:c.145-171_145-164dup	NP_660087.1:n.145-171_145-164dup
NM_145113.3:c.172-171_172-164dup	NP_660088.1:n.172-171_172-164dup
NM_001271069.2:c.144+15501_144+15508dup	NP_001257998.1:n.144+15501_144+15508dup
NM_197957.4:c.171+15501_171+15508dup	NP_932061.1:n.171+15501_171+15508dup