Canonical Allele Identifier: CA2649662359

Gene: ASPM

Linked Data

• gnomAD v4: 1-197124271-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124277_197124278del , CM000663.2:g.197124277_197124278del	GRCh38
NC_000001.10:g.197093407_197093408del , CM000663.1:g.197093407_197093408del	GRCh37
NC_000001.9:g.195360030_195360031del	NCBI36
NG_015867.1:g.27422_27423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1269_1270del
ENST00000367409.9:c.3227_3228del MANE Select	ENSP00000356379.4:p.Thr1076LysfsTer15
ENST00000680112.1:n.1283_1284del
ENST00000680265.1:c.3227_3228del	ENSP00000505384.1:p.Thr1076LysfsTer15
ENST00000680710.1:c.3227_3228del	ENSP00000506676.1:p.Thr1076LysfsTer15
ENST00000681879.1:c.3227_3228del	ENSP00000505363.1:p.Thr1076LysfsTer15
ENST00000294732.11:c.3227_3228del	ENSP00000294732.7:p.Thr1076LysfsTer15
ENST00000367408.5:c.977_978del	ENSP00000356378.1:p.Thr326LysfsTer15
ENST00000367409.8:c.3227_3228del	ENSP00000356379.4:p.Thr1076LysfsTer15
ENST00000612785.1:c.561+19418_561+19419del	ENSP00000479244.1:n.561+19418_561+19419del
NM_001206846.1:c.3227_3228del	NP_001193775.1:p.Thr1076LysfsTer15
NM_018136.4:c.3227_3228del	NP_060606.3:p.Thr1076LysfsTer15
NM_018136.5:c.3227_3228del MANE Select	NP_060606.3:p.Thr1076LysfsTer15
NM_001206846.2:c.3227_3228del	NP_001193775.1:p.Thr1076LysfsTer15