Canonical Allele Identifier: CA2692951811

Gene: SHOX

Linked Data

• gnomAD v4: X-640956-C-CTTCCTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.640956_640957insTTCCTCTG , CM000685.2:g.640956_640957insTTCCTCTG	GRCh38
NC_000023.10:g.601691_601692insTTCCTCTG , CM000685.1:g.601691_601692insTTCCTCTG	GRCh37
NC_000023.9:g.521691_521692insTTCCTCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.545-43_545-42insTTCCTCTG MANE Select	ENSP00000508521.1:n.545-43_545-42insTTCCTCTG
ENST00000334060.8:c.545-43_545-42insTTCCTCTG	ENSP00000335505.3:n.545-43_545-42insTTCCTCTG
ENST00000381575.6:c.545-43_545-42insTTCCTCTG	ENSP00000370987.1:n.545-43_545-42insTTCCTCTG
ENST00000381578.6:c.545-43_545-42insTTCCTCTG	ENSP00000370990.1:n.545-43_545-42insTTCCTCTG
ENST00000554971.6:c.545-43_545-42insTTCCTCTG	ENSP00000452016.1:n.545-43_545-42insTTCCTCTG