Canonical Allele Identifier: CA984104015

Gene: MAPT

Linked Data

• dbSNP Id: rs2063545245
• gnomAD v3: 17-45900495-TTTTC-T
• gnomAD v4: 17-45900495-TTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45900499_45900502del , CM000679.2:g.45900499_45900502del	GRCh38
NC_000017.10:g.43977865_43977868del , CM000679.1:g.43977865_43977868del	GRCh37
NC_000017.9:g.41333661_41333664del	NCBI36
NG_007398.1:g.11038_11041del
NG_007398.2:g.11037_11040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.-18+5813_-18+5816del	ENSP00000413056.2:n.-18+5813_-18+5816del
ENST00000703922.1:c.-18+5813_-18+5816del	ENSP00000515557.1:n.-18+5813_-18+5816del
ENST00000703923.1:c.-18+5813_-18+5816del	ENSP00000515558.1:n.-18+5813_-18+5816del
ENST00000703924.1:c.-18+5813_-18+5816del	ENSP00000515559.1:n.-18+5813_-18+5816del
ENST00000703974.1:n.143+5813_143+5816del
ENST00000703975.1:n.114+5813_114+5816del
ENST00000703976.1:n.95+5813_95+5816del
ENST00000703977.1:n.24+5813_24+5816del
ENST00000703978.1:c.-18+5813_-18+5816del	ENSP00000515600.1:n.-18+5813_-18+5816del
ENST00000262410.10:c.-18+5813_-18+5816del MANE Select	ENSP00000262410.6:n.-18+5813_-18+5816del
ENST00000344290.10:c.-18+5813_-18+5816del	ENSP00000340820.6:n.-18+5813_-18+5816del
ENST00000351559.10:c.-18+5813_-18+5816del	ENSP00000303214.7:n.-18+5813_-18+5816del
ENST00000535772.6:c.-18+5813_-18+5816del	ENSP00000443028.2:n.-18+5813_-18+5816del
ENST00000680542.1:c.-171+5813_-171+5816del	ENSP00000505258.1:n.-171+5813_-171+5816de...
ENST00000680674.1:c.-18+5813_-18+5816del	ENSP00000505478.1:n.-18+5813_-18+5816del
ENST00000262410.9:c.-18+5813_-18+5816del	ENSP00000262410.5:n.-18+5813_-18+5816del
ENST00000334239.12:c.-18+5813_-18+5816del	ENSP00000334886.8:n.-18+5813_-18+5816del
ENST00000340799.9:c.-18+5813_-18+5816del	ENSP00000340438.5:n.-18+5813_-18+5816del
ENST00000344290.9:c.-18+5813_-18+5816del	ENSP00000340820.5:n.-18+5813_-18+5816del
ENST00000351559.9:c.-18+5813_-18+5816del	ENSP00000303214.7:n.-18+5813_-18+5816del
ENST00000446361.7:c.-18+5813_-18+5816del	ENSP00000408975.3:n.-18+5813_-18+5816del
ENST00000535772.5:c.-18+5813_-18+5816del	ENSP00000443028.1:n.-18+5813_-18+5816del
ENST00000570299.5:n.111+5813_111+5816del
ENST00000571311.5:c.-18+5813_-18+5816del	ENSP00000460048.1:n.-18+5813_-18+5816del
NM_001123066.3:c.-18+5813_-18+5816del	NP_001116538.2:n.-18+5813_-18+5816del
NM_001123067.3:c.-18+5813_-18+5816del	NP_001116539.1:n.-18+5813_-18+5816del
NM_001203251.1:c.-18+5813_-18+5816del	NP_001190180.1:n.-18+5813_-18+5816del
NM_001203252.1:c.-18+5813_-18+5816del	NP_001190181.1:n.-18+5813_-18+5816del
NM_005910.5:c.-18+5813_-18+5816del	NP_005901.2:n.-18+5813_-18+5816del
NM_016834.4:c.-18+5813_-18+5816del	NP_058518.1:n.-18+5813_-18+5816del
NM_016835.4:c.-18+5813_-18+5816del	NP_058519.3:n.-18+5813_-18+5816del
NM_016841.4:c.-18+5813_-18+5816del	NP_058525.1:n.-18+5813_-18+5816del
XM_005257362.3:c.-18+5813_-18+5816del	XP_005257419.1:n.-18+5813_-18+5816del
XM_005257364.3:c.-18+5813_-18+5816del	XP_005257421.1:n.-18+5813_-18+5816del
XM_005257365.3:c.-18+5813_-18+5816del	XP_005257422.1:n.-18+5813_-18+5816del
XM_005257366.2:c.-18+5813_-18+5816del	XP_005257423.1:n.-18+5813_-18+5816del
XM_005257367.3:c.-18+5813_-18+5816del	XP_005257424.1:n.-18+5813_-18+5816del
XM_005257368.3:c.-18+5813_-18+5816del	XP_005257425.1:n.-18+5813_-18+5816del
XM_005257369.3:c.-18+5813_-18+5816del	XP_005257426.1:n.-18+5813_-18+5816del
XM_005257370.3:c.-18+5813_-18+5816del	XP_005257427.1:n.-18+5813_-18+5816del
XM_005257371.3:c.-18+5813_-18+5816del	XP_005257428.1:n.-18+5813_-18+5816del
XM_005257362.4:c.-18+5813_-18+5816del	XP_005257419.1:n.-18+5813_-18+5816del
XM_005257364.4:c.-18+5813_-18+5816del	XP_005257421.1:n.-18+5813_-18+5816del
XM_005257365.4:c.-18+5813_-18+5816del	XP_005257422.1:n.-18+5813_-18+5816del
XM_005257366.3:c.-18+5813_-18+5816del	XP_005257423.1:n.-18+5813_-18+5816del
XM_005257367.4:c.-18+5813_-18+5816del	XP_005257424.1:n.-18+5813_-18+5816del
XM_005257368.4:c.-18+5813_-18+5816del	XP_005257425.1:n.-18+5813_-18+5816del
XM_005257369.4:c.-18+5813_-18+5816del	XP_005257426.1:n.-18+5813_-18+5816del
XM_005257370.4:c.-18+5813_-18+5816del	XP_005257427.1:n.-18+5813_-18+5816del
XM_005257371.4:c.-18+5813_-18+5816del	XP_005257428.1:n.-18+5813_-18+5816del
NM_001203251.2:c.-18+5813_-18+5816del	NP_001190180.1:n.-18+5813_-18+5816del
NM_001377265.1:c.-18+5813_-18+5816del MANE Select	NP_001364194.1:n.-18+5813_-18+5816del
NM_001377266.1:c.-18+5813_-18+5816del	NP_001364195.1:n.-18+5813_-18+5816del
NM_001377267.1:c.-18+5813_-18+5816del	NP_001364196.1:n.-18+5813_-18+5816del
NM_001377268.1:c.-171+5813_-171+5816del	NP_001364197.1:n.-171+5813_-171+5816del
NM_016834.5:c.-18+5813_-18+5816del	NP_058518.1:n.-18+5813_-18+5816del
NM_016841.5:c.-18+5813_-18+5816del	NP_058525.1:n.-18+5813_-18+5816del
NR_165166.1:n.133+5813_133+5816del
NM_001123066.4:c.-18+5813_-18+5816del	NP_001116538.2:n.-18+5813_-18+5816del
NM_001123067.4:c.-18+5813_-18+5816del	NP_001116539.1:n.-18+5813_-18+5816del
NM_001203252.2:c.-18+5813_-18+5816del	NP_001190181.1:n.-18+5813_-18+5816del
NM_005910.6:c.-18+5813_-18+5816del	NP_005901.2:n.-18+5813_-18+5816del
NM_016835.5:c.-18+5813_-18+5816del	NP_058519.3:n.-18+5813_-18+5816del